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Journal articles on the topic 'CoA dehydrogenase (LCAD) deficiency'

Author: Grafiati

Published: 5 June 2025

Last updated: 2 August 2025

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1

van VLIES, Naomi, Liqun TIAN, Henk OVERMARS, et al. "Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse." Biochemical Journal 387, no. 1 (2005): 185–93. http://dx.doi.org/10.1042/bj20041489.

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In the present paper, we describe a novel method which enables the analysis of tissue acylcarnitines and carnitine biosynthesis intermediates in the same sample. This method was used to investigate the carnitine and fatty acid metabolism in wild-type and LCAD−/− (long-chain acyl-CoA dehydrogenase-deficient) mice. In agreement with previous results in plasma and bile, we found accumulation of the characteristic C14:1-acylcarnitine in all investigated tissues from LCAD−/− mice. Surprisingly, quantitatively relevant levels of 3-hydroxyacylcarnitines were found to be present in heart, muscle and b

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2

Ijlst, Lodewijk, and Ronald J. A. Wanders. "A Simple Spectrophotometric Assay for Long-Chain Acyl-CoA Dehydrogenase Activity Measurements in Human Skin Fibroblasts." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 30, no. 3 (1993): 293–97. http://dx.doi.org/10.1177/000456329303000311.

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Long-chain acyl-CoA dehydrogenase (LCAD) deficiency is an autosomal recessive disorder of fatty acid metabolism characterized by hypoglycemia, muscle weakness and hepato- and cardiomegaly to varying extents. Analysis of organic acids in urine usually reveals dicarboxylic aciduria with elevated levels of adipic, suberic and sebacic acids as well as longer chain dicarboxylic acids. Correct diagnosis of suspected patients requires measurement of LCAD in tissue or preferably, white blood cells and/or cultured skin fibroblasts. In this paper we present a simple spectrophotometric enzyme assay based

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3

Chiba, Takuto, Eric S. Goetzman, and Sunder Sims-Lucas. "Deficiency of Long-Chain Acyl-CoA Dehydrogenase (LCAD) Protects Against AKI." Journal of the American Society of Nephrology 33, no. 11S (2022): 628–29. http://dx.doi.org/10.1681/asn.20223311s1628d.

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4

Das, Anibh M., Sabine Illsinger, Thomas Lücke, et al. "Isolated Mitochondrial Long-Chain Ketoacyl-CoA Thiolase Deficiency Resulting from Mutations in the HADHB Gene." Clinical Chemistry 52, no. 3 (2006): 530–34. http://dx.doi.org/10.1373/clinchem.2005.062000.

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Abstract Background: The human mitochondrial trifunctional protein (MTP) complex is composed of 4 hydroacyl-CoA dehydrogenase-α (HADHA) and 4 hydroacyl-CoA dehydrogenase-β (HADHB) subunits, which catalyze the last 3 steps in the fatty acid β-oxidation spiral of long-chain fatty acids. The HADHB gene encodes long-chain ketoacyl-CoA thiolase (LCTH) activity, whereas the HADHA gene contains the information for the long-chain enoyl-CoA hydratase and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) functions. At present, 2 different biochemical phenotypes of defects in the mitochondrial trifuncti

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5

Roslavtseva, E. A., T. V. Bushueva, T. E. Borovik, et al. "An application experience of a specialized product based on 100% medium-chain triglyceride oil in diet therapy of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency." Experimental and Clinical Gastroenterology, no. 2 (April 7, 2021): 106–13. http://dx.doi.org/10.31146/1682-8658-ecg-186-2-106-113.

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a hereditary disease referred to the group of disorders of mitochondrial β-oxidation of fatty acids with autosomal recessive inheritance. The main symptoms include hypoglycemia, hepatic steatosis, cardiomyopathy, cardiac arrhythmias, progressive muscle hypotension. We present a case of successful diagnosis and treatment of a long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) with the use of 100% medium chain triglycerides’ oil product. The importance of the possibly earliest verification of the diagnosis and initiation

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6

Khramova, Elena B., Elena Yu Khorosheva, and Olga V. Perfilova. "Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case report." Problems of Endocrinology 64, no. 3 (2018): 160–62. http://dx.doi.org/10.14341/probl8636.

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Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) is an autosomal recessive mitochondrial fatty acid beta-oxidation disorder with variable presentation including lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), hepatic steatosis, and hypocarnitinemia. In this report, we describe a 9-month-old male patient who suffered from recurrent hypoglycemia with hypoglycemic convulsions, vomiting, and neurological regression since the age of 4 months. The patient presented with hypotonia, motor delay, hepatomegaly, protein-energy malnutrition (BMI SDS — 2.8). Bioch

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7

Alatibi, Khaled I., Judith Hagenbuchner, Zeinab Wehbe, et al. "Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders." Cells 10, no. 5 (2021): 1239. http://dx.doi.org/10.3390/cells10051239.

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Long-chain fatty acid oxidation disorders (lc-FAOD) are a group of diseases affecting the degradation of long-chain fatty acids. In order to investigate the disease specific alterations of the cellular lipidome, we performed undirected lipidomics in fibroblasts from patients with carnitine palmitoyltransferase II, very long-chain acyl-CoA dehydrogenase, and long-chain 3-hydroxyacyl-CoA dehydrogenase. We demonstrate a deep remodeling of mitochondrial cardiolipins. The aberrant phosphatidylcholine/phosphatidylethanolamine ratio and the increased content of plasmalogens and of lysophospholipids s

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8

Vinayasree., C., Naidu. K. Mohan, E. Muralinath., et al. "Symptoms of Classical MCAD Deficiency, Variant MCAD Deficiency as well as Silent Mcad Deficiency, Diagnosis of MCAD Deficiency, Differential Diagnosis of MCAD Deficiency and Treatment as well as Management of MCAD Deficiency." Research and Reviews: Neonatal and Pediatric Nursing 1, no. 2 (2023): 5–12. https://doi.org/10.5281/zenodo.8163023.

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<em>Medium - chain acetyl - CoA dehydrogenase (MCAD) deficiency ia a rare inherited metabolic disorder that shows its influence on the bodys capability to breakdown fatty acids for energy. The symptoms of classical MCAD deficiency typically manifest especially during infancy or early childhood. Variant MCAD deficiency is happened by mutations in the ACADM gene. Symptoms of variant MCAD deficiency are hypoglycemia, vomiting, lethargy, encephalopathy and liver dysfunction. Silent MCAD deficiency is also known as silent medium - chain acyl CoA dehydrogenase deficiency. Symptoms of silent MCAD def

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9

Baydakova, Galina V., Polina G. Tsygankova, Natalia L. Pechatnikova, Olga A. Bazhanova, Yana D. Nazarenko, and Ekaterina Y. Zakharova. "New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency." International Journal of Neonatal Screening 9, no. 3 (2023): 48. http://dx.doi.org/10.3390/ijns9030048.

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Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiencies are rare fatal disorders of fatty acid β-oxidation with no apparent genotype–phenotype correlation. The measurement of acylcarnitines by MS/MS is a current diagnostic workup in these disorders. Nevertheless, false-positive and false-negative results have been reported, highlighting a necessity for more sensitive and specific biomarkers. This study included 54 patients with LCHAD/MTP deficiency that has been confirmed by biochemical and molecular methods. The analysis of acylcarnitines

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10

Kulebina, Elena A., Andrey N. Surkov, Aleksandr S. Potapov, et al. "Diagnosis and treatment of the long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) in a 8 months old infant." Russian Pediatric Journal 23, no. 4 (2020): 274–79. http://dx.doi.org/10.18821/1560-9561-2020-23-4-274-279.

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A long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a hereditary disease referred to the group of disorders of the mitochondrial β-oxidation of fatty acids. The inheritance mechanism is autosomal recessive. The several main symptoms of the disease include hypoglycemia, liver steatosis, cardiomyopathy, cardiac arrhythmias, progressive muscle hypotension. Laboratory signs include a relative increase in the concentration of long-chain fatty acids, as determined by tandem mass spectrometry. Also, a characteristic feature is a low rate of free carnitine (C0), normally exceeding 20 μmol/liter

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11

Steinmann, Daniel, Jana Knab, and Hans-Joachim Priebe. "Perioperative management of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency." Pediatric Anesthesia 20, no. 4 (2010): 371–73. http://dx.doi.org/10.1111/j.1460-9592.2010.03274.x.

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12

Pop, Lucian Gheorghe, Ioan Dumitru Suciu, Nicolae Suciu, and Oana Daniela Toader. "Acute Fatty Liver of Pregnancy." Journal of Interdisciplinary Medicine 5, no. 1 (2020): 23–26. http://dx.doi.org/10.2478/jim-2020-0001.

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AbstractAcute fatty liver of pregnancy (AFLP) is a rare but life-threatening condition that develops in the third trimester of pregnancy. AFLP shares similar clinical features with other more common pregnancy-associated conditions. However, early correct diagnosis is important for maternal and fetal survival. Once the diagnosis has been established, immediate delivery and maternal intensive support should be undertaken. Both parents and the infant should be tested for deficiencies of the mitochondrial fatty acid oxidation, especially for long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) defic

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13

Gillingham, Melanie B., Cary O. Harding, Dale A. Schoeller, Dietrich Matern, and Jonathan Q. Purnell. "Altered body composition and energy expenditure but normal glucose tolerance among humans with a long-chain fatty acid oxidation disorder." American Journal of Physiology-Endocrinology and Metabolism 305, no. 10 (2013): E1299—E1308. http://dx.doi.org/10.1152/ajpendo.00225.2013.

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The development of insulin resistance has been associated with impaired mitochondrial fatty acid oxidation (FAO), but the exact relationship between FAO capacity and glucose metabolism continues to be debated. To address this controversy, patients with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) deficiency underwent an oral glucose tolerance test (OGTT) and measurement of energy expenditure, body composition, and plasma metabolites. Compared with controls, patients with LCHAD deficiency had a trend toward higher total body fat and extramyocellular lipid deposition but similar levels of

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14

PEIRO, C., I. PINILLA, B. PEIRO, et al. "Retinal dystrophy with macular hyperpigmentation in long chain 3‐hydroxy‐acyl‐coa dehydrogenase (lchad) deficiency." Acta Ophthalmologica 89, s248 (2011): 0. http://dx.doi.org/10.1111/j.1755-3768.2011.269.x.

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15

Amendt, Brad A., Lisa Teel, and William J. Rhead. "LONG CHAIN ACYL-COA DEHYDROGENASE (LCADH) DEFICIENCY (LCD): CLINICAL AND BIOCHEMICAL HETEROGENETTY IN THREE PATIENTS." Pediatric Research 21, no. 4 (1987): 339A. http://dx.doi.org/10.1203/00006450-198704010-01029.

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16

Jones, Patricia M., Monica Moffitt, Delanie Joseph, et al. "Accumulation of Free 3-Hydroxy Fatty Acids in the Culture Media of Fibroblasts from Patients Deficient in Long-Chain l-3-Hydroxyacyl-CoA Dehydrogenase: A Useful Diagnostic Aid." Clinical Chemistry 47, no. 7 (2001): 1190–94. http://dx.doi.org/10.1093/clinchem/47.7.1190.

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Abstract Background: The diagnosis of long-chain l-3-hydroxy-acyl-coenzyme A dehydrogenase (LCHAD) deficiency frequently requires the study of cultured fibroblasts. We developed such a test that does not require disruption and loss of the cells. Methods: We measured free 3-hydroxy fatty acids (3-OHFAs) in media of skin fibroblasts cultures from 11 patients with a genetic deficiency of LCHAD and the associated disorder of mitochondrial trifunctional protein (MTFP). Fibroblasts were cultured for 24 h with 100 μmol/L nonisotopic palmitate added. 3-OHFAs were measured by selected-ion monitoring, s

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17

Metzler, Marina, William Burns, Carly Loar, Stephanie Napolitano, and Bimal P. Chaudhari. "NECROTIZING ENTEROCOLITIS FOLLOWING TRIHEPTANOIN TREATMENT IN A NEONATE WITH LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY (LCHAD)." Molecular Genetics and Metabolism 135, no. 4 (2022): 287–88. http://dx.doi.org/10.1016/j.ymgme.2022.01.067.

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18

Haglind, C. Bieneck, A. Nordenström, S. Ask, U. von Döbeln, J. Gustafsson, and M. Halldin Stenlid. "Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast." Journal of Inherited Metabolic Disease 38, no. 2 (2014): 315–22. http://dx.doi.org/10.1007/s10545-014-9750-3.

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19

Baskin, Berivan, Michael Geraghty, and Peter N. Ray. "Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency." American Journal of Medical Genetics Part A 152A, no. 7 (2010): 1808–11. http://dx.doi.org/10.1002/ajmg.a.33462.

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20

Matern, Dietrich, Bahig M. Schehata, Prem Shekhawa, Arnold W. Strauss, Michael J. Bennett, and Piero Rinaldo. "Placental Floor Infarction Complicating the Pregnancy of a Fetus with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency." Molecular Genetics and Metabolism 72, no. 3 (2001): 265–68. http://dx.doi.org/10.1006/mgme.2000.3135.

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21

Anderson, Sharon, and Susan Sklower Brooks. "When the Usual Symptoms Become an Unusual Diagnosis: A Case Report of Trifunctional Protein Complex." Neonatal Network 32, no. 4 (2013): 262–73. http://dx.doi.org/10.1891/0730-0832.32.4.262.

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AbstractDisorders of mitochondrial fatty acid β-oxidation should be considered in any infant who presents with unexplained hypoglycemia and/or myopathy. Although disorders of trifunctional protein (TFP) complex including long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial TFP deficiencies are extremely rare, the combined incidence of mitochondrial fatty acid disorders is quite frequent. With the expansion of newborn screening, what were once considered uncommon disorders are being identified with increasing frequency in asymptomatic infants. The following case scenario present

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22

Haglind, C. Bieneck, A. Nordenström, S. Ask, U. von Döbeln, J. Gustafsson, and M. Halldin Stenlid. "Erratum to: Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast." Journal of Inherited Metabolic Disease 38, no. 2 (2014): 377. http://dx.doi.org/10.1007/s10545-014-9786-4.

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23

Sykut-Cegielska, Jolanta, Wanda Gradowska, Dorota Piekutowska-Abramczuk, et al. "Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening." Journal of Inherited Metabolic Disease 34, no. 1 (2010): 185–95. http://dx.doi.org/10.1007/s10545-010-9244-x.

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24

ROOMETS, E., T. KIVELÄ, and T. TYNI. "Early dietary therapy in preventing progression of retinopathy in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency caused by the homozygous G1528C mutation." Acta Ophthalmologica 91 (August 2013): 0. http://dx.doi.org/10.1111/j.1755-3768.2013.4677.x.

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25

Yu, Wenfeng, Xiquan Liang, Regina E. Ensenauer, Jerry Vockley, Lawrence Sweetman та Horst Schulz. "Leaky β-Oxidation of atrans-Fatty Acid". Journal of Biological Chemistry 279, № 50 (2004): 52160–67. http://dx.doi.org/10.1074/jbc.m409640200.

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The degradation of elaidic acid (9-trans-octadecenoic acid), oleic acid, and stearic acid by rat mitochondria was studied to determine whether the presence of atransdouble bond in place of acisdouble bond or no double bond affects β-oxidation. Rat mitochondria from liver or heart effectively degraded the coenzyme A derivatives of all three fatty acids. However, with elaidoyl-CoA as a substrate, a major metabolite accumulated in the mitochondrial matrix. This metabolite was isolated and identified as 5-trans-tetradecenoyl-CoA. In contrast, little or none of the corresponding metabolites were de

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26

Liang, X., W. Le, D. Zhang, and H. Schulz. "Impact of the intramitochondrial enzyme organization on fatty acid oxidation." Biochemical Society Transactions 29, no. 2 (2001): 279–82. http://dx.doi.org/10.1042/bst0290279.

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The enzymes of mitochondrial β-oxidation are thought to be organized in at least two functional complexes, a membrane-bound, long-chain-specific β-oxidation system and a matrix system consisting of soluble enzymes with preferences for medium-chain and short-chain substrates. This hypothesis is supported by the observation that the inactivation of long-chain 3-ketoacyl-CoA thiolase by 4-bromotiglic acid (4-bromo-2-methylbut-2-enoic acid) causes the complete inhibition of palmitate β-oxidation even though 3-ketoacyl-CoA thiolase, which acts on 3-ketopalmitoyl-CoA, remains partly active. The obse

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27

GILLINGHAM, M., B. SCOTT, D. ELLIOTT, and C. HARDING. "Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency." Molecular Genetics and Metabolism 89, no. 1-2 (2006): 58–63. http://dx.doi.org/10.1016/j.ymgme.2006.06.004.

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28

Abo Alrob, Osama, and Gary D. Lopaschuk. "Role of CoA and acetyl-CoA in regulating cardiac fatty acid and glucose oxidation." Biochemical Society Transactions 42, no. 4 (2014): 1043–51. http://dx.doi.org/10.1042/bst20140094.

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CoA (coenzyme A) and its derivatives have a critical role in regulating cardiac energy metabolism. This includes a key role as a substrate and product in the energy metabolic pathways, as well as serving as an allosteric regulator of cardiac energy metabolism. In addition, the CoA ester malonyl-CoA has an important role in regulating fatty acid oxidation, secondary to inhibiting CPT (carnitine palmitoyltransferase) 1, a key enzyme involved in mitochondrial fatty acid uptake. Alterations in malonyl-CoA synthesis by ACC (acetyl-CoA carboxylase) and degradation by MCD (malonyl-CoA decarboxylase)

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29

Gillingham, Melanie B., Jonathan Q. Purnell, Julia Jordan, Diane Stadler, Andrea M. Haqq, and Cary O. Harding. "Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency." Molecular Genetics and Metabolism 90, no. 1 (2007): 64–69. http://dx.doi.org/10.1016/j.ymgme.2006.08.002.

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30

Otto, Lisa R., Richard L. Boriack, Debbie J. Marsh, et al. "Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS)." American Journal of Medical Genetics 83, no. 1 (1999): 3–5. http://dx.doi.org/10.1002/(sici)1096-8628(19990305)83:1<3::aid-ajmg2>3.0.co;2-k.

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31

Su, Ying-Wen, Pao-Shu Wu, Sheng-Hsiang Lin, Wen-Yu Huang, Yu-Shao Kuo, and Hung-Pin Lin. "Prognostic Value of the Overexpression of Fatty Acid Metabolism-Related Enzymes in Squamous Cell Carcinoma of the Head and Neck." International Journal of Molecular Sciences 21, no. 18 (2020): 6851. http://dx.doi.org/10.3390/ijms21186851.

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Reprogramming of cellular energy metabolism, such as lipid metabolism, is a hallmark of squamous cell carcinoma of the head and neck (SCCHN). However, whether protein expression related to fatty acid oxidation (FAO) affects survival in SCCHN remains unclear. We aimed to investigate FAO-related enzyme expression and determine its correlation with clinicopathological variables in SCCHN patients. Immunohistochemical analysis (IHC) of FAO-related protein expression, including carnitine palmitoyltransferase 1 (CPT1), the acyl-CoA dehydrogenase family, and fatty acid synthase (FAS), was performed us

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Fukushima, Arata, Osama Abo Alrob, Liyan Zhang, et al. "Acetylation and succinylation contribute to maturational alterations in energy metabolism in the newborn heart." American Journal of Physiology-Heart and Circulatory Physiology 311, no. 2 (2016): H347—H363. http://dx.doi.org/10.1152/ajpheart.00900.2015.

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Dramatic maturational changes in cardiac energy metabolism occur in the newborn period, with a shift from glycolysis to fatty acid oxidation. Acetylation and succinylation of lysyl residues are novel posttranslational modifications involved in the control of cardiac energy metabolism. We investigated the impact of changes in protein acetylation/succinylation on the maturational changes in energy metabolism of 1-, 7-, and 21-day-old rabbit hearts. Cardiac fatty acid β-oxidation rates increased in 21-day vs. 1- and 7-day-old hearts, whereas glycolysis and glucose oxidation rates decreased in 21-

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33

Jones, Patricia M., Yasmeen Butt, and Michael J. Bennett. "Accumulation of 3-Hydroxy-Fatty Acids in the Culture Medium of Long-Chain l-3-Hydroxyacyl CoA Dehydrogenase (LCHAD) and Mitochondrial Trifunctional Protein-Deficient Skin Fibroblasts: Implications for Medium Chain Triglyceride Dietary Treatment of LCHAD Deficiency." Pediatric Research 53, no. 5 (2003): 783–87. http://dx.doi.org/10.1203/01.pdr.0000059748.67987.1f.

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Sauer, Sven W., Jürgen G. Okun, Marina A. Schwab, et al. "Bioenergetics in Glutaryl-Coenzyme A Dehydrogenase Deficiency." Journal of Biological Chemistry 280, no. 23 (2005): 21830–36. http://dx.doi.org/10.1074/jbc.m502845200.

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Inherited deficiency of glutaryl-CoA dehydrogenase results in an accumulation of glutaryl-CoA, glutaric, and 3-hydroxyglutaric acids. If untreated, most patients suffer an acute encephalopathic crisis and, subsequently, acute striatal damage being precipitated by febrile infectious diseases during a vulnerable period of brain development (age 3 and 36 months). It has been suggested before that some of these organic acids may induce excitotoxic cell damage, however, the relevance of bioenergetic impairment is not yet understood. The major aim of our study was to investigate respiratory chain, t

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35

Millichap, J. Gordon. "Acyl-CoA Dehydrogenase Deficiency and RS." Pediatric Neurology Briefs 8, no. 5 (1994): 37. http://dx.doi.org/10.15844/pedneurbriefs-8-5-7.

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36

O'Reilly, Linda, Brage Andresen, Niels Gregersen, and Paul Engel. "Medium Chain Acyl-CoA Dehydrogenase Deficiency." Biochemical Society Transactions 28, no. 3 (2000): A73. http://dx.doi.org/10.1042/bst028a073b.

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37

Al-Khalifa, Dana, Eman Shajira, and Salman Al-Khalifa. "Short Chain Acyl-CoA Dehydrogenase Deficiency." Bahrain Medical Bulletin 40, no. 2 (2018): 132–34. http://dx.doi.org/10.12816/0047570.

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38

Chalmers, Ronald A., Murray D. Bain, and Johannes Zschocke. "Riboflavin-responsive glutaryl CoA dehydrogenase deficiency." Molecular Genetics and Metabolism 88, no. 1 (2006): 29–37. http://dx.doi.org/10.1016/j.ymgme.2005.11.007.

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39

Jameson, Elisabeth, and John H. Walter. "Medium-chain acyl-CoA dehydrogenase deficiency." Paediatrics and Child Health 25, no. 3 (2015): 145–48. http://dx.doi.org/10.1016/j.paed.2014.10.008.

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40

Jameson, Elisabeth, and John H. Walter. "Medium-chain acyl-CoA dehydrogenase deficiency." Paediatrics and Child Health 29, no. 3 (2019): 123–26. http://dx.doi.org/10.1016/j.paed.2019.01.005.

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41

Rinaldo, Piero, John J. O'Shea, Paul M. Coates, Daniel E. Hale, Charles A. Stanley, and Kay Tanaka. "Medium-Chain Acyl-CoA Dehydrogenase Deficiency." New England Journal of Medicine 319, no. 20 (1988): 1308–13. http://dx.doi.org/10.1056/nejm198811173192003.

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42

Touma, E. H., and C. Charpentier. "Medium chain acyl-CoA dehydrogenase deficiency." Archives of Disease in Childhood 67, no. 1 (1992): 142–45. http://dx.doi.org/10.1136/adc.67.1.142.

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43

Wanders, Ronald J. A., Simone Denis, Jos P. N. Ruiter, Lodewijk IJlst, and Georges Dacremont. "2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): evidence for a major role of LCAD in branched-chain fatty acid oxidation." Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism 1393, no. 1 (1998): 35–40. http://dx.doi.org/10.1016/s0005-2760(98)00053-8.

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44

Treem, William R., Jeffrey S. Hyams, Charles A. Stanley, Daniel E. Hale, and Harris B. Leopold. "Hypoglycemia, Hypotonia, and Cardiomyopathy: The Evolving Clinical Picture of Long-Chain Acyl-CoA Dehydrogenase Deficiency." Pediatrics 87, no. 3 (1991): 328–33. http://dx.doi.org/10.1542/peds.87.3.328.

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Inherited defects in fatty acid oxidation, which have been described and diagnosed with increasing frequency in the last decade, are most commonly attributed to a deficiency in the activity of medium-chain acyl-CoA dehydrogenase. Few cases of the related enzyme defect of long-chain acyl-CoA dehydrogenase activity have been reported. An infant with documented long-chain acyl-CoA dehydrogenase deficiency is described with a detailed metabolic profile, long-term clinical follow-up, and response to treatment. This patient is compared with the seven previously published cases of this disorder in or

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Onkenhout, W., V. Venizelos, P. F. van der Poel, M. P. van den Heuvel, and B. J. Poorthuis. "Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders." Clinical Chemistry 41, no. 10 (1995): 1467–74. http://dx.doi.org/10.1093/clinchem/41.10.1467.

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Abstract The free fatty acid and total fatty acid profiles in plasma of nine patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, two with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and two with mild-type multiple acyl-CoA dehydrogenase (MAD-m) deficiency, were analyzed by gas chromatography-mass spectrometry. In the plasma of patients with MCAD deficiency we found increases of octanoic acid (8:0), decanoic acid (10:0), 4-decenoic acid (10:1 omega 6), and 4,7-decadienoic acid (10:2 omega 3), all present almost exclusively in free form. The patients with VLCAD def

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Sutton, V. R., W. E. O'Brien, G. D. Clark, J. Kim, and R. J. A. Wanders. "3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency." Journal of Inherited Metabolic Disease 26, no. 1 (2003): 69–71. http://dx.doi.org/10.1023/a:1024083715568.

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Koeller, D. M., S. Sauer, M. Wajner, et al. "Animal models for glutaryl-CoA dehydrogenase deficiency." Journal of Inherited Metabolic Disease 27, no. 6 (2004): 813–18. http://dx.doi.org/10.1023/b:boli.0000045763.52907.5e.

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Lindner, M., S. KÖlker, A. Schulze, E. Christensen, C. R. Greenberg, and G. F. Hoffmann. "Neonatal screening for glutaryl-CoA dehydrogenase deficiency." Journal of Inherited Metabolic Disease 27, no. 6 (2004): 851–59. http://dx.doi.org/10.1023/b:boli.0000045769.96657.af.

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Mühlhausen, C., G. F. Hoffmann, K. A. Strauss, et al. "Maintenance treatment of glutaryl-CoA dehydrogenase deficiency." Journal of Inherited Metabolic Disease 27, no. 6 (2004): 885–92. http://dx.doi.org/10.1023/b:boli.0000045773.07785.83.

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KÖlker, S., C. R. Greenberg, M. Lindner, E. Müller, E. R. Naughten, and G. F. Hoffmann. "Emergency treatment in glutaryl-CoA dehydrogenase deficiency." Journal of Inherited Metabolic Disease 27, no. 6 (2004): 893–902. http://dx.doi.org/10.1023/b:boli.0000045774.51260.ea.

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