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Journal articles on the topic 'Branched-chain alpha-ketoacid dehydrogenase (BCKD) complex'

Author: Grafiati

Published: 5 June 2025

Last updated: 16 July 2025

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1

Madu, Glory, and Olasunkanmi Adegoke. "Myofibrillar Protein Abundance and Anabolic Signaling in Myotubes Depleted of E1 Alpha Subunit of Branched-Chain Ketoacid Dehydrogenase Complex." Current Developments in Nutrition 4, Supplement_2 (2020): 642. http://dx.doi.org/10.1093/cdn/nzaa049_035.

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Abstract Objectives Branched-chain amino acids (BCAAs) are essential amino acids that are crucial for skeletal muscle anabolism. Thus, alterations in their levels are associated with muscle atrophic diseases such as cancer, chronic inflammatory and neurological disorders. Others have linked impairments in BCAA metabolism to the development of insulin resistance and its sequelae. Compared to the effects of theses amino acids, much less is known on how impairment in BCAA catabolism affects skeletal muscle. BCAA catabolism starts with the reversible transamination by the mitochondrial enzyme bran

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2

Nellis, Mary M., Christopher B. Doering, Andrea Kasinski та Dean J. Danner. "Insulin increases branched-chain α-ketoacid dehydrogenase kinase expression in Clone 9 rat cells". American Journal of Physiology-Endocrinology and Metabolism 283, № 4 (2002): E853—E860. http://dx.doi.org/10.1152/ajpendo.00133.2002.

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The branched-chain amino acids (BCAA) are committed to catabolism by the activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. BCKD activity is regulated through the action of the complex-specific BCKD kinase that phosphorylates two serine residues in the E1α subunit. Greater BCKD kinase expression levels result in a lower activity state of BCKD and thus a decreased rate of BCAA catabolism. Activity state varies among tissues and can be altered by diet, exercise, hormones, and disease state. Within individual tissues, the concentration of BCKD kinase reflects the activity sta

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3

Fregeau, D. R., P. A. Davis, D. J. Danner, et al. "Antimitochondrial antibodies of primary biliary cirrhosis recognize dihydrolipoamide acyltransferase and inhibit enzyme function of the branched chain alpha-ketoacid dehydrogenase complex." Journal of Immunology 142, no. 11 (1989): 3815–20. http://dx.doi.org/10.4049/jimmunol.142.11.3815.

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Abstract Antimitochondrial antibodies (AMA) recognizing the acetyltransferase (E2) of the pyruvate dehydrogenase (PDH) complex have been previously well-documented and the immunodominant epitope mapped. In this study, we demonstrate that sera from patients with primary biliary cirrhosis (PBC) react with another lipoic acid containing acyltransferase enzyme, namely the E2 of the branched chain alpha-ketoacid dehydrogenase (BCKD) complex. Indeed, 85/120 (71%) sera from patients with PBC reacted with BCKD-E2 by immunoblotting against purified BCKD complex. In contrast, sera from patients with chr

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4

Ansari, A. A., N. Neckelmann, F. Villinger, et al. "Epitope mapping of the branched chain alpha-ketoacid dehydrogenase dihydrolipoyl transacylase (BCKD-E2) protein that reacts with sera from patients with idiopathic dilated cardiomyopathy." Journal of Immunology 153, no. 10 (1994): 4754–65. http://dx.doi.org/10.4049/jimmunol.153.10.4754.

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Abstract Sera from 29 of 48 patients with idiopathic dilated cardiomyopathy (IDCM) and six of six patients with dilated cardiomyopathy (DCM) secondary to suspected viral myocarditis were shown to react with the branched chain alpha-ketoacid dehydrogenase (BCKD) complex mitochondrial proteins. Whereas sera from only 1 of 26 patients with ischemic heart disease showed reactivity against the BCKD complex protein, 0 of 30 sera from normal human volunteers, 0 of 64 sera from patients with lupus, and 0 of 34 sera from patients with rheumatoid arthritis showed detectable reactivity, denoting an eleme

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5

Farajallah, Achmad, Jeane Siswitasari Mulyana, Aurora Fathyaa, Annisa Nur Aini та Dyah Perwitasari. "Nucleotides Variability of Branched Chain Ketoacid Dehydrogenase E1-α Polypeptide (BCKDHA) Gene on Madura Cattle". BIO Web of Conferences 123 (2024): 01025. http://dx.doi.org/10.1051/bioconf/202412301025.

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Madura cattle is one of Indonesian native cattle which has physical strength and is highly adaptable under dry climates. Branched Chain α-Keto Dehydrogenase (BCKD) complex bound to mitochondrial inner membrane and catalyzes branched-chain amino acid catabolism into α-keto. Subunit E1-α of BCKD complex is encoded by the Branched Chain Ketoacid Dehydrogenase E1-α Polypeptide (BCKDHA) gene. This research was conducted to analyze the variability of the 3’ end promoter and exon 1 of the BCKDHA gene. Variant analysis was done on 8 samples of Madura cattle, 1 sample of filial Ongole cattle, and 1 sam

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6

Wang, Xiaonan, та S. Russ Price. "Differential regulation of branched-chain α-ketoacid dehydrogenase kinase expression by glucocorticoids and acidification in LLC-PK1-GR101 cells". American Journal of Physiology-Renal Physiology 286, № 3 (2004): F504—F508. http://dx.doi.org/10.1152/ajprenal.00296.2003.

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Acidosis and glucocorticoids (GC) are two catabolic signals associated with chronic renal disease. Previously, we reported that these signals stimulate branched-chain amino acid (BCAA) oxidation in renal tubule cells by increasing both the amount and activation state of branched-chain α-ketoacid dehydrogenase (BCKD). Activation of the BCKD complex could result from decreased expression of BCKD kinase, which inhibits BCKD by phosphorylating its E1α subunit. To investigate this possibility, we examined how dexamethasone and acidification (pH 7.0) influence BCKD kinase expression in LLC-PK1-GR101

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7

Raut, Dinkar, Sagar Yamnaji Walhekar, Anjini Misra, and Rachna Singh. "Thinking beyond sepsis to unmask a metabolic mystery: a rare case of neonatal maple syrup urine disease." International Journal of Contemporary Pediatrics 12, no. 4 (2025): 677–80. https://doi.org/10.18203/2349-3291.ijcp20250780.

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Maple syrup urine disease (MSUD) was first reported by paediatrician Menkes in 1954, as the α-ketoacid excreted in urine smells like maple syrup. MSUD is a rare genetic disorder which manifested as impaired branched-chain amino acid (BCAA) metabolism caused by branched-chain α-ketoacid dehydrogenase (BCKD) complex deficiency. Early diagnosis and treatment of MSUD is important for better outcomes. Feed intolerance, history of consanguinity between parents and that peculiar odour of maple syrup in urine should raise suspicion of the above. Timely referral, especially by clinicians practising in

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8

Wang, Xiaonan, Junping Hu, and S. Russ Price. "Inhibition of PI3-kinase signaling by glucocorticoids results in increased branched-chain amino acid degradation in renal epithelial cells." American Journal of Physiology-Cell Physiology 292, no. 5 (2007): C1874—C1879. http://dx.doi.org/10.1152/ajpcell.00617.2006.

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Phosphatidylinositol 3-kinase(PI3K) is a pivotal enzyme involved in the control of a variety of diverse metabolic functions. Glucocorticoids have been shown to attenuate PI3K signaling in some nonrenal cell types, raising the possibility that some physiological effects of glucocorticoids in renal cells may be achieved by a similar mechanism. Therefore, we tested whether glucocorticoids affect signaling through the insulin receptor substrate (IRS)-1/PI3K/Akt signaling cascade in LLC-PK1-GR101 renal epithelial cells. Treatment of cells with dexamethasone for 24 h: 1) suppressed IRS-1-associated

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9

Lackey, Denise E., Christopher J. Lynch, Kristine C. Olson, et al. "Regulation of adipose branched-chain amino acid catabolism enzyme expression and cross-adipose amino acid flux in human obesity." American Journal of Physiology-Endocrinology and Metabolism 304, no. 11 (2013): E1175—E1187. http://dx.doi.org/10.1152/ajpendo.00630.2012.

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Elevated blood branched-chain amino acids (BCAA) are often associated with insulin resistance and type 2 diabetes, which might result from a reduced cellular utilization and/or incomplete BCAA oxidation. White adipose tissue (WAT) has become appreciated as a potential player in whole body BCAA metabolism. We tested if expression of the mitochondrial BCAA oxidation checkpoint, branched-chain α-ketoacid dehydrogenase (BCKD) complex, is reduced in obese WAT and regulated by metabolic signals. WAT BCKD protein (E1α subunit) was significantly reduced by 35–50% in various obesity models ( fa/fa rats

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10

O'Toole, D., D. L. Montgomery, L. Steadman, B. O'Rourke, W. Russell, and J. Dennis. "Status Spongiosus of White Matter in Newborn Gelbvieh-Cross Calves." Journal of Veterinary Diagnostic Investigation 17, no. 6 (2005): 546–53. http://dx.doi.org/10.1177/104063870501700604.

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Various forms of status spongiosus occur in neonatal cattle, the best characterized of which is due to mutations of the branched-chain alpha-keto acid dehydrogenase complex (BCKD), resulting in bovine maple syrup urine disease (MSUD, branched-chain ketoaciduria). A distinctive neurological syndrome was identified between 1998 and 2003 in 9 calves in a 250-cow stabilized Gelbvieh-Red Angus herd. Both sexes were affected (6 heifers, 3 bulls), with a low annual incidence (3 cases in 1998; no cases in 1999; 2 cases in 2000; 2 in 2001; 1 in 2002; 1 in 2003). Affected calves were born full-term, una

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11

Maguolo, Alice, Giulia Rodella, Alejandro Giorgetti, et al. "A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism." Genes 13, no. 2 (2022): 233. http://dx.doi.org/10.3390/genes13020233.

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BCKDK is an important key regulator of branched-chain ketoacid dehydrogenase complex activity by phosphorylating and so inactivating branched-chain ketoacid dehydrogenases, the rate-limiting enzyme of the branched-chain amino acid metabolism. We identified, by whole exome-sequencing analysis, the p.His162Gln variant of the BCKDK gene in a neonate, picked up by newborn screening, with a biochemical phenotype of a mild form of maple syrup urine disease (MSUD). The same biochemical and genetic picture was present in the father. Computational analysis of the mutation was performed to better unders

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12

Fernicola, Joshua, Sagar Vyavahare, Sonu Kumar Gupta, et al. "The Role of Branched Chain Ketoacid Dehydrogenase Kinase (BCKDK) in Skeletal Muscle Biology and Pathogenesis." International Journal of Molecular Sciences 25, no. 14 (2024): 7601. http://dx.doi.org/10.3390/ijms25147601.

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Muscle wasting can be caused by nutrition deficiency and inefficient metabolism of amino acids, including Branched Chain Amino Acids (BCAAs). Branched Chain Amino Acids are a major contributor to the metabolic needs of healthy muscle and account for over a tenth of lean muscle mass. Branched chain alpha-ketoacid dehydrogenase (BCKD) is the rate limiting enzyme of BCAA metabolism. Inhibition of BCKD is achieved through a reversible phosphorylation event by Branched Chain a-ketoacid dehydrogenase kinase (BCKDK). Our study set out to determine the importance of BCKDK in the maintenance of skeleta

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13

Bellucci, Roberto, Meagan Gallagher, Sabine Oertelt, et al. "Patients Who Respond to Donor Lymphocyte Infusion (DLI) Have an Antibody Response Against PDC-E2, the Immunodominant Autoantigens of Primary Biliary Cirrhosis (PBC), but with Different Specificity." Blood 106, no. 11 (2005): 3105. http://dx.doi.org/10.1182/blood.v106.11.3105.3105.

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Abstract Although, the effectiveness of allogeneic hematopoietic stem cell transplantation (HSCT) is, in large part, due to the destruction of recipient malignant cells by donor immune cells, the antigenic targets of this response in most patients are not well defined. In previous studies we demonstrated that patients with multiple myeloma (MM) who achieved a complete response after HSCT and donor lymphocyte infusion (DLI) developed high titer antibodies to a variety of antigens expressed by myeloma cells. Dihydrolipoamide acetyltransferase, the E2 component of the pyruvate dehydrogenase compl

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14

Coffey, Nathan J., Romain Riscal, Nicolas Skuli, et al. "Abstract B003: Increasing branched-chain amino acid metabolism reduces clear cell renal cell carcinoma growth." Cancer Research 83, no. 16_Supplement (2023): B003. http://dx.doi.org/10.1158/1538-7445.kidney23-b003.

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Abstract North America has the highest incidence of renal cancer in the world with the most common subtype being clear cell renal cell carcinoma (ccRCC). Metabolic dysfunction is a hallmark of ccRCC based on molecular analysis and its clear cell histologic appearance due to significant cytoplasmic accumulation of lipid droplets and glycogen. Using publicly available RNA-Seq and proteomic datasets, we identified reduced expression of branched-chain amino acid (BCAA) enzymes BCAA transaminase 2 (BCAT2) and the branched-chain ketoacid dehydrogenase complex (BCKDH) in ccRCC compared to healthy kid

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15

Yue, Shi-Jun, Juan Liu, Ai-Ting Wang, et al. "Berberine alleviates insulin resistance by reducing peripheral branched-chain amino acids." American Journal of Physiology-Endocrinology and Metabolism 316, no. 1 (2019): E73—E85. http://dx.doi.org/10.1152/ajpendo.00256.2018.

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Increased circulating branched-chain amino acids (BCAAs) have been involved in the pathogenesis of obesity and insulin resistance (IR). However, evidence relating berberine (BBR), gut microbiota, BCAAs, and IR is limited. Here, we showed that BBR could effectively rectify steatohepatitis and glucose intolerance in high-fat diet (HFD)-fed mice. BBR reorganized gut microbiota populations under both the normal chow diet (NCD) and HFD. Particularly, BBR noticeably decreased the relative abundance of BCAA-producing bacteria, including order Clostridiales; families Streptococcaceae, Clostridiaceae,

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16

COSTEAS, Paul A., та Jeffrey M. CHINSKY. "Glucocorticoid regulation of branched-chain α-ketoacid dehydrogenase E2 subunit gene expression". Biochemical Journal 347, № 2 (2000): 449–57. http://dx.doi.org/10.1042/bj3470449.

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Regulation of the mammalian branched-chain α-ketoacid dehydrogenase complex (BCKAD) occurs under a variety of stressful conditions associated with changes in circulating glucocorticoids. Multiple levels of regulation in hepatocytes, including alteration of the levels of the structural subunits available for assembly (E1, α-ketoacid decarboxylase; E2, dihydrolipoamide acyltransferase; and E3, dihydrolipoamide dehydrogenase), as well as BCKAD kinase, which serves to phosphorylate the E1α subunit and inactivate complex activity, have been proposed. The direct role of glucocorticoids in regulating

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17

Knapik-Czajka, Malgorzata Elzbieta. "Effect of low doses of bezafibrate and fenofibrate on liver 2-oxo-glutarate dehydrogenase complex in low-protein diet fed rats." Bangladesh Journal of Pharmacology 10, no. 3 (2015): 505. http://dx.doi.org/10.3329/bjp.v10i3.23101.

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<p>Multienzyme 2-oxoglutarate complex (2-OGDH) together with branched chain α-ketoacid dehydrogenase (BCKDH) and pyruvate dehydrogenase belong to the family of mitochondrial 2-oxoacid dehydrogenases. Hypolipidemic drugs, bezafibrate and fenofibrate, up-regulate liver BCKDH. The present study has been undertaken to determine the effect of low doses of bezafibrate and fenofibrate on liver 2-OGDH. Fibrates were administrated to rats fed low-protein diet at 5, 10 or 20 mg/kg. In rats treated with increasing doses of bezafibrate 2-OGDH activity increased by 7, 35 and 42%, while in rats admini

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18

Beggs, M., J. M. Shaw, and P. J. Randle. "Longer-term regulation of branched-chain-2-oxoacid dehydrogenase complex studied in rat hepatocytes in culture." Biochemical Journal 257, no. 1 (1989): 271–75. http://dx.doi.org/10.1042/bj2570271.

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The effect of protein-free diet to decrease liver activity of branched-chain (-2-oxoacid) dehydrogenase (BCD) complex (active form) and increase BCD kinase activity was unaffected by preparation of hepatocytes, but partially reversed by 25 h of culture of hepatocytes in medium 199. Activation of BCD complex preceded loss of BCD kinase. The effect of culture on BCD complex was completely prevented by omission of branched-chain amino acids and partially prevented by 1 mM-alpha-cyano-4-hydroxycinnamate or 0.2 mM-pyruvate/2 mM-lactate. Protein-free diet decreased plasma branched-chain amino and ox

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19

Robarge, Mark E., Jonathan E. Beever, Stephen D. Lenz, Christopher J. Lynch, and William L. Wigle. "Maple Syrup Urine Disease in a Central Indiana Hereford Herd." Case Reports in Veterinary Medicine 2015 (2015): 1–4. http://dx.doi.org/10.1155/2015/204037.

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Maple syrup urine disease (MSUD) and further cases were identified in herd mates of a small Hereford herd in Indiana based on history, clinical signs, microscopic lesions, and biochemical and genetic testing. This aminoacidopathy has been diagnosed in polled Shorthorn, polled Hereford, and Hereford cattle in Australia, Uruguay, Argentina, and Canada and is the result of a mutation of the branched-chain alpha-ketoacid dehydrogenase complex. The Indiana index calf case was confirmed by showing the classic accumulation of ketoacids in liver that results from a defect in the E1-alpha subunit (248

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20

Tsai, Hui-Ying, Shih-Cheng Wu, Jian-Chiuan Li, Yu-Min Chen, Chih-Chiang Chan та Chun-Hong Chen. "Loss of the Drosophila branched-chain α-ketoacid dehydrogenase complex results in neuronal dysfunction". Disease Models & Mechanisms 13, № 8 (2020): dmm044750. http://dx.doi.org/10.1242/dmm.044750.

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ABSTRACTMaple syrup urine disease (MSUD) is an inherited error in the metabolism of branched-chain amino acids (BCAAs) caused by a severe deficiency of the branched-chain α-ketoacid dehydrogenase (BCKDH) complex, which ultimately leads to neurological disorders. The limited therapies, including protein-restricted diets and liver transplants, are not as effective as they could be for the treatment of MSUD due to the current lack of molecular insights into the disease pathogenesis. To address this issue, we developed a Drosophila model of MSUD by knocking out the dDBT gene, an ortholog of the hu

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21

Hood, D. A., and R. L. Terjung. "Effect of alpha-ketoacid dehydrogenase phosphorylation on branched-chain amino acid metabolism in muscle." American Journal of Physiology-Endocrinology and Metabolism 261, no. 5 (1991): E628—E634. http://dx.doi.org/10.1152/ajpendo.1991.261.5.e628.

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The regulation of leucine and valine metabolism was evaluated in skeletal muscle of perfused rat hindlimb. Control of the branched-chain alpha-ketoacid dehydrogenase (BCKADH) via phosphorylation was removed with 0.4 mM alpha-chloroisocaproate (CIC). CIC activated the BCKADH complex 13- to 26-fold and led to increased rates of leucine and valine uptake into muscle, transamination to the corresponding alpha-ketoacid, and leucine (3- to 4-fold) and valine (6-fold) decarboxylation but led to decreased rates of alpha-ketoacid efflux from muscle. Although the increased rates of branched-chain amino

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22

Panchal, Ashini, Christopher T. Watterson, and Jack Green. "Late-onset maple syrup urine disease triggered by human herpesvirus-6 mediated encephalopathy in a toddler." International Journal of Contemporary Pediatrics 11, no. 7 (2024): 969–72. http://dx.doi.org/10.18203/2349-3291.ijcp20241685.

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Metabolic crisis should always be on the differential diagnosis of a toddler presenting with focal neurologic signs and refractory ketoacidosis. Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder caused by an enzyme deficiency in the branched-chain α-ketoacid dehydrogenase (BCKDH) complex that leads to toxic buildup of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine. Classically diagnosed in the neonatal period (especially with the advent of newborn screening), our patient is a rare case of a previously healthy toddler with late-onset or intermi

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Belczyk, Małgorzata, Malgorzata Knapik-Czajka, Anna Gawedzka, Katarzyna Mikolajczyk, and Jagoda Drag. "A combination of simvastatin and low-protein diet increases renal 2-oxoglutarate dehydrogenase activity in rats." Acta Poloniae Pharmaceutica - Drug Research 79, no. 6 (2023): 913–20. http://dx.doi.org/10.32383/appdr/159789.

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Mitochondrial 2-oxoglutarate dehydrogenase complex (2-OGDH) that consists of multiple copies of 3 catalytic subunits (E1, E2, E3) is a regulatory enzyme of tricarboxylic acid cycle. 2-OGDH together with branched chain α-ketoacid dehydrogenase (BCKDH) and pyruvate dehydrogenase (PDH) belongs to the 2-oxoacid dehydrogenases family. It was shown that in protein-restricted rats simvastatin stimulated liver BCKDH, whereas it exerted no effect on BCKDH in rats fed a standard diet. We hypothesized that combination of simvastatin and low-protein diet could have an impact on renal 2-OGDH. The purpose o

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24

Zhao, Y., J. Hawes, K. M. Popov, et al. "Site-directed mutagenesis of phosphorylation sites of the branched chain alpha-ketoacid dehydrogenase complex." Journal of Biological Chemistry 269, no. 28 (1994): 18583–87. http://dx.doi.org/10.1016/s0021-9258(17)32349-9.

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25

Xu, Jing, Youseff Jakher, and Rebecca C. Ahrens-Nicklas. "Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders." International Journal of Molecular Sciences 21, no. 20 (2020): 7490. http://dx.doi.org/10.3390/ijms21207490.

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Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase complex (BCKDC), which catalyzes the irreversible catabolism of branched-chain amino acids (BCAAs). Current management of this BCAA dyshomeostasis consists of dietary restriction of BCAAs and liver transplantation, which aims to partially restore functional BCKDC activity in the periphery. These treatments improve the circulating levels of BCAAs and significantly increase survival rates in MSUD patients. However, significant cognitive and psychiatric m

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MURAKAMI, Taro, Masayuki MATSUO, Ayako SHIMIZU, and Yoshiharu SHIMOMURA. "Dissociation of Branched-Chain .ALPHA.-Keto Acid Dehydrogenase Kinase (BDK) from Branched-Chain .ALPHA.-Keto Acid Dehydrogenase Complex (BCKDC) by BDK Inhibitors." Journal of Nutritional Science and Vitaminology 51, no. 1 (2005): 48–50. http://dx.doi.org/10.3177/jnsv.51.48.

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Van de Water, J., A. A. Ansari, C. D. Surh, et al. "Evidence for the targeting by 2-oxo-dehydrogenase enzymes in the T cell response of primary biliary cirrhosis." Journal of Immunology 146, no. 1 (1991): 89–94. http://dx.doi.org/10.4049/jimmunol.146.1.89.

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Abstract Primary biliary cirrhosis (PBC) is a chronic autoimmune liver disease that includes the presence of lymphoid infiltrates in portal tracts, high titer autoantibodies against pyruvate dehydrogenase-E2 (PDH-E2) and branched chain ketoacid dehydrogenase-E2 (BCKD-E2), and biliary tract destruction. The mechanism by which the autoimmune response is induced, the specificity of damage to the biliary epithelium, and the role of T cells in PBC are still unknown. To address these issues, we have taken advantage of a mouse mAb, coined C355.1, and studied its reactivity against a panel of liver ti

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Fregeau, D. R., T. E. Roche, P. A. Davis, R. Coppel, and M. E. Gershwin. "Primary biliary cirrhosis. Inhibition of pyruvate dehydrogenase complex activity by autoantibodies specific for E1 alpha, a non-lipoic acid containing mitochondrial enzyme." Journal of Immunology 144, no. 5 (1990): 1671–76. http://dx.doi.org/10.4049/jimmunol.144.5.1671.

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Abstract Antimitochondrial antibodies (AMA) are serologically characteristic of patients with PBC. Four Ag recognized by AMA have been recently identified, including protein X and the acyltransferases of three related multienzyme complexes: the pyruvate dehydrogenase complex (PDC), the branched-chain alpha-ketoacid dehydrogenase complex, and the alpha-ketoglutarate dehydrogenase complex. Each of these enzymes contains one or more lipoyl moieties as part of a major functional site. In addition, epitope mapping has suggested that the AMA target is this lipoic acid-binding region. In this report

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Tsareva, Ju A., N. I. Zryachkin, M. A. Kuznetsova, and E. V. Bogacheva. "Leucinosis, or maple syrup urine disease (lecture and a clinical case)." Almanac of Clinical Medicine 48, no. 4 (2020): 254–62. http://dx.doi.org/10.18786/2072-0505-2020-48-018.

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Maple syrup urine disease (leucinosis, short-chain ketoaciduria, branched-chain disease, branched-chain ketonuria) is an autosomal recessive disorder which is a consequence of the deficient branched-chain alpha ketoacid dehydrogenase complex. There are five subtypes of the disease: classical, intermediate, intermittent, thiamine-dependent and E3-deficient. Leucinosis is characterized by high plasma levels of branched-chain amino acids (leucine, isoleucine and valine) and high urine levels of branched-chain ketoacids, as well as of lactate and pyruvate. Tandem mass spectrometry can be used as a

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Zeynalzadeh, Monica, Alireza Tafazoli, Azadeh Aarabi, et al. "Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease." Journal of Pediatric Endocrinology and Metabolism 31, no. 2 (2018): 205–12. http://dx.doi.org/10.1515/jpem-2017-0305.

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Abstract Background: Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by dysfunction of the branched-chain α-ketoacid dehydrogenase (BCKDH) complex. Mutations in the BCKDHA, BCKDHB and DBT genes are responsible for MSUD. The current study analyzed seven Iranian MSUD patients genetically and explored probable correlations between their genotype and phenotype. Methods: The panel of genes, including BCKDHA, BCKDHB and DBT, was evaluated, using routine the polymerase chain reaction (PCR)-sequencing method. In addition, protein modeling (homology and threadin

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Davie, J. R., R. M. Wynn, R. P. Cox, and D. T. Chuang. "Expression and assembly of a functional E1 component (alpha 2 beta 2) of mammalian branched-chain alpha-ketoacid dehydrogenase complex in Escherichia coli." Journal of Biological Chemistry 267, no. 23 (1992): 16601–6. http://dx.doi.org/10.1016/s0021-9258(18)42045-5.

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LI, Zhihao, Taro MURAKAMI, Naoya NAKAI, et al. "Modification by Exercise Training of Activity and Enzyme Expression of Hepatic Branched-Chain .ALPHA.-Ketoacid Dehydrogenase Complex in Streptozotocin-Induced Diabetic Rats." Journal of Nutritional Science and Vitaminology 47, no. 5 (2001): 345–50. http://dx.doi.org/10.3177/jnsv.47.345.

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Vinayasree., C., Naidu. K. Mohan, E. Muralinath., et al. "Symptoms, Treatment, Complications as well as Prognosis of Classic Maple Syrup Urine Disease (MSUD), Metabolic Instability, Neurological Complications and Treatment Of Intermediate MSUD, Case Studies as well as Success Stories of Thiamine Responsive MSUD." Journal of Applied Nursing Research and Education 1, no. 2 (2023): 1–9. https://doi.org/10.5281/zenodo.8134401.

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<em>Maple Syrup Urine Disease (MSUD) is a rare inherited metabolic disorder </em><em>manifested</em><em> by the impaired </em><em>catabolism</em><em> of certain amino acids. This disorder </em><em>results in the collection of </em><em>toxic substances in the body, leading to a range of symptoms and complications. MSUD is </em><em>categorized </em><em>into different types </em><em>dependent </em><em>on the specific enzyme deficiencies involved in the disease. This review article aims to provide a comprehensive overview of the types of MSUD, </em><em>along with</em><em> their clinical features,

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Nobukuni, Y., H. Mitsubuchi, F. Endo, I. Akaboshi, J. Asaka, and I. Matsuda. "Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease." Journal of Clinical Investigation 86, no. 1 (1990): 242–47. http://dx.doi.org/10.1172/jci114690.

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Nobukuni, Yoshitaka, Hiroshi Mitsubuchi, Fumio Endo, et al. "Isolation and characterization of a complementary DNA clone coding for the E1.beta. subunit of the bovine branched-chain .alpha.-ketoacid dehydrogenase complex: complete amino acid sequence of the precursor protein and its proteolytic processing." Biochemistry 29, no. 5 (1990): 1154–60. http://dx.doi.org/10.1021/bi00457a009.

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Nobukuni, Y., H. Mitsubuchi, I. Akaboshi, et al. "Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease." Journal of Clinical Investigation 87, no. 5 (1991): 1862–66. http://dx.doi.org/10.1172/jci115209.

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Singh, Emily, Young‐In Chi, Jessica Kopesky, et al. "Computational structural genomics and clinical evidence suggest BCKDK gain‐of‐function may cause a potentially asymptomatic maple syrup urine disease phenotype." JIMD Reports, April 8, 2024. http://dx.doi.org/10.1002/jmd2.12419.

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AbstractMaple syrup urine disease (MSUD) is a disorder of branched‐chain amino acid metabolism caused by a defect in the branched‐chain α‐ketoacid dehydrogenase (BCKD) complex (OMIM #248600). The hallmark presentation is encephalopathic crisis in neonates, but can also present with metabolic decompensation, developmental delays, and feeding difficulties. Biochemical evidence for MSUD includes elevated branched‐chain amino acids (BCAA) and the pathognomonic presence of alloisoleucine. The BCKD complex contains several subunits associated with autosomal recessive MSUD, while its regulatory prote

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Shimomura, Yoshiharu, Yusuke Kondo, Rina Ito, Ai Tsuji, Katsumi Shibata, and Yasuyuki Kitaura. "Novel mechanism responsible for regulation of branched‐chain alpha‐ketoacid dehydrogenase kinase." FASEB Journal 30, S1 (2016). http://dx.doi.org/10.1096/fasebj.30.1_supplement.909.3.

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Branched‐chain amino acids (BCAAs: leucine, isoleucine, and valine) are indispensable amino acids. The BCAA catabolism is regulated by branched‐chain alpha‐ketoacid dehydrogenase (BCKDH), which is located at the second step of the mitochondrial catabolic pathway. The BCKDH is regulated by a phosphorylation‐dephosphorylation cycle, and BCKDH kinase (BDK) is responsible for inactivation of the BCKDH by phosphorylation of the E1‐alpha component. It has been demonstrated that two forms of BDK exist in rat liver mitochondria: a form bound to BCKDH and a free form. Only the bound form is suggested t

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Beatty, Brendan, Zameer Dhanani, and Olasunkanmi John Adegoke. "Regulation of Branched‐Chain Alpha‐Keto Acid Dehydrogenase During Muscle Cell Differentiation." FASEB Journal 31, S1 (2017). http://dx.doi.org/10.1096/fasebj.31.1_supplement.lb465.

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Skeletal muscles are critical to locomotion and whole‐body substrate metabolism; their mass and function also affect quality of life. Suboptimal muscle mass and function underlie or worsen chronic catabolic conditions like uncontrolled diabetes and several cancers. They are also predictive of treatment outcomes and survival. As a result, studies into mechanisms of muscle preservation and regeneration hold potential to improve patient outcomes.Muscle mass is a function of muscle cell number and protein balance. While muscle protein balance can be regulated by nutrition, especially the branched‐

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Rueter, Johanna, Gerald Rimbach, Christian Treitz, et al. "The mitochondrial BCKD complex interacts with hepatic apolipoprotein E in cultured cells in vitro and mouse livers in vivo." Cellular and Molecular Life Sciences 80, no. 3 (2023). http://dx.doi.org/10.1007/s00018-023-04706-x.

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Abstract Background and aims Apolipoprotein E (APOE) is known for its role in lipid metabolism and its association with age-related disease pathology. The aim of the present work was to identify previously unknown functions of APOE based on the detection of novel APOE protein–protein interaction candidates. Approach and results APOE targeted replacement mice and transfected cultured hepatocytes expressing the human isoforms APOE3 and APOE4 were used. For 7 months, APOE3 and APOE4 mice were fed a high-fat and high-sugar diet to induce obesity, while a subgroup was subjected to 30% dietary restr

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Feng, Wei, Jinfu Jia, Heyang Guan, and Qing Tian. "Case report: maple syrup urine disease with a novel DBT gene mutation." BMC Pediatrics 19, no. 1 (2019). http://dx.doi.org/10.1186/s12887-019-1880-1.

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Abstract Background Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. Mutations in four genes (BCKDHA, BCKDHB, DLD and DBT) are associated with MSUD. Here, the presenting symptoms and clinical course of a case of MSUD with a novel DBT gene mutation are described. Case presentation We describe an infant with MSUD with the DBT gene mutation who had drowsiness and poor appetite as well as abnormal findings upon head magnetic resonance imaging (MRI), plasma amino acid ana

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Tejedor, Juan Ramón, Alejandro Soriano‐Sexto, Leonardo Beccari, et al. "Integration of multi‐omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease." Journal of Inherited Metabolic Disease, December 10, 2024. https://doi.org/10.1002/jimd.12829.

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AbstractMaple syrup urine disease (MSUD) is a rare inherited metabolic disorder characterized by deficient activity of the branched‐chain alpha‐ketoacid dehydrogenase (BCKDH) complex, required to metabolize the amino acids leucine, isoleucine, and valine. Despite its profound metabolic implications, the molecular alterations underlying this metabolic impairment had not yet been completely elucidated. We performed a comprehensive multi‐omics integration analysis, including genomic, epigenomic, and transcriptomic data from fibroblasts derived from a cohort of MSUD patients and unaffected control

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Mora, Stephen, and Olasunkanmi A. J. Adegoke. "Sex differences in cachexia outcomes, anabolic signalling and BCAA metabolism following chemotherapy." Physiology 38, S1 (2023). http://dx.doi.org/10.1152/physiol.2023.38.s1.5735255.

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Sex is a risk factor for cancer. Affecting nearly 80% of cancer patients is cachexia, a body and skeletal muscle-wasting syndrome. Poor nutritional status, tumour related factors and chemotherapy contribute to cachexia. Although negative effects of chemotherapy on skeletal muscle are documented, the majority of studies are completed in male animals. Although the branched-chain amino acids (BCAA: leucine, isoleucine and valine) activate anabolic signalling in skeletal muscle and have been shown to reduce some of the effects of cachexia, BCAA nutritional support does not reverse cachexia and few

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Acevedo, Aracely, Anthony Jones та Ajit Divakaruni. "Abstract P3202: The Branched Chain α-Ketoacid Dehydrogenase Kinase (BCKDK) Inhibitor BT2 Is A Mitochondrial Uncoupler". Circulation Research 133, Suppl_1 (2023). http://dx.doi.org/10.1161/res.133.suppl_1.p3202.

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Elevated levels of branched-chain amino acids (BCAAs) are associated with cardiovascular and metabolic disease including heart failure, diabetes, and obesity. BCAAs are first transaminated into their respective branched-chain α-ketoacids (BCKAs) by the mitochondrial branched-chain amino-transaminase (BCAT m ). The pharmacological agent BT2 (dichloropheno[b]thiophene-2-carboxylic-acid) was designed to induce catabolism of BCAAs by inhibiting the branched-chain α-ketoacid dehydrogenase kinase (BCKDK). The function of BCKDK is to phosphorylate and therefore deactivate the branched-chain α-ketoaci

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Ibrahim, Suad Lateef, Mohammed Najim Abed, Gehad Mohamed, Joshua C. Price, Marwan Ibrahim Abdullah, and Alan Richardson. "Inhibition of branched-chain alpha-keto acid dehydrogenase kinase augments the sensitivity of ovarian and breast cancer cells to paclitaxel." British Journal of Cancer, December 16, 2022. http://dx.doi.org/10.1038/s41416-022-02095-9.

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Abstract Context Many cancer patients who initially respond to chemotherapy eventually develop chemoresistance, and to address this, we previously conducted a RNAi screen to identify genes contributing to resistance. One of the hits from the screen was branched-chain α-keto acid dehydrogenase kinase (BCKDK). BCKDK controls the metabolism of branched-chain amino acids (BCAAs) through phosphorylation and inactivation of the branched-chain α-keto acid dehydrogenase complex (BCKDH), thereby inhibiting catabolism of BCAAs. Methods We measured the impact on paclitaxel sensitivity of inhibiting BCKDK

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Aliya Allahwala, Sibtain Ahmed, and Bushra Afroze. "Maple syrup urine disease: magnetic resonance imaging findings in three patients." Journal of the Pakistan Medical Association, January 21, 2021, 1–11. http://dx.doi.org/10.47391/jpma.1341.

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Abstract Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder, caused by branched-chain alpha-ketoacid dehydrogenase (BCKD) deficiency, leading to toxic accumulation of branched-chain amino acids (BCAAs) including leucine, isoleucine and valine and their corresponding ?-ketoacids. The diagnosis of MSUD is based on elevated BCAAs and allo-isoleucine in plasma, and branched-chain hydroxyacids and ketoacids in urine. The identification of alloisoleucine >5 µmol/L is considered pathognomonic. Moreover, brain magnetic resonance imaging (MRI) showing atypi

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Huong, Nguyen Thi Thu, Vu Chi Dung, Nguyen Thi Thanh Ngan, Nguyen Kim Thoa, and Nguyen Huy Hoang. "Hereditary characteristics of the S339L mutation in a patient with maple syrup urine disease in Vietnam." Academia Journal of Biology 42, no. 2 (2020). http://dx.doi.org/10.15625/2615-9023/v42n2.14913.

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Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by malfunction of the branched-chain α-ketoacid dehydrogenase complex (BCKDH). This enzyme complex participates in the catalyzing metabolisms of the branched-chain α-ketoacids, the second step of the degradation of branched-chain amino acids. Impaired activities of the BCKAD complex lead to an increase of the levels of branched- chain amino acid such as leucine, valine, and isoleucine in the blood. In children with maple syrup urine disease, catalysis of the metabolisms of some amino acids failed to

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Weiss, Maria, Sara Hettrich, Theresa Hofmann, et al. "Mitolnc controls cardiac BCAA metabolism and heart hypertrophy by allosteric activation of BCKDH." Nucleic Acids Research, April 3, 2024. http://dx.doi.org/10.1093/nar/gkae226.

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Abstract Enzyme activity is determined by various different mechanisms, including posttranslational modifications and allosteric regulation. Allosteric activators are often metabolites but other molecules serve similar functions. So far, examples of long non-coding RNAs (lncRNAs) acting as allosteric activators of enzyme activity are missing. Here, we describe the function of mitolnc in cardiomyocytes, a nuclear encoded long non-coding RNA, located in mitochondria and directly interacting with the branched-chain ketoacid dehydrogenase (BCKDH) complex to increase its activity. The BCKDH complex

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Rostampour, Noushin, Setila Dalili, Hossein Moravej, et al. "Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach." Orphanet Journal of Rare Diseases 20, no. 1 (2025). https://doi.org/10.1186/s13023-025-03533-6.

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AbstractMaple Syrup Urine Disease (MSUD) disease is a defect in the function of the Branched-chain 2-ketoacid dehydrogenase complex (BCKDH). It is caused by pathogenic biallelic variants in BCKDHA, BCKA decarboxylase, or dihydrolipoamide dehydrogenase. The brain is the major organ involved in MSUD. MSUD happens in about 1 in 86,800 to 185,000 live births. According to some diversity in the management of Iranian patients with MSUD, the development of a national guideline is essential. This guideline is provided through a literature search on articles in PubMed, Scopus, Web of Sciences, Cochrane

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Yu, Jia-yu, Nancy Cao, Christoph D. Rau, et al. "Cell-autonomous effect of cardiomyocyte branched-chain amino acid catabolism in heart failure in mice." Acta Pharmacologica Sinica, March 29, 2023. http://dx.doi.org/10.1038/s41401-023-01076-9.

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AbstractParallel to major changes in fatty acid and glucose metabolism, defect in branched-chain amino acid (BCAA) catabolism has also been recognized as a metabolic hallmark and potential therapeutic target for heart failure. However, BCAA catabolic enzymes are ubiquitously expressed in all cell types and a systemic BCAA catabolic defect is also manifested in metabolic disorder associated with obesity and diabetes. Therefore, it remains to be determined the cell-autonomous impact of BCAA catabolic defect in cardiomyocytes in intact hearts independent from its potential global effects. In this

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