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Relevant bibliographies by topics / Short - chain acyl - CoA dehydrogenase (SCAD) deficiency

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Academic literature on the topic 'Short - chain acyl - CoA dehydrogenase (SCAD) deficiency'

Author: Grafiati

Published: 5 June 2025

Last updated: 16 July 2025

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Journal articles on the topic "Short - chain acyl - CoA dehydrogenase (SCAD) deficiency"

1

Adhikari, Aashish N., Robert J. Currier, Hao Tang, et al. "Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing." International Journal of Neonatal Screening 6, no. 2 (2020): 41. http://dx.doi.org/10.3390/ijns6020041.

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Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive disorder of β-oxidation caused by pathogenic variants in the ACADS gene. Analyte testing for SCADD in blood and urine, including newborn screening (NBS) using tandem mass spectrometry (MS/MS) on dried blood spots (DBSs), is complicated by the presence of two relatively common ACADS variants (c.625G>A and c.511C>T). Individuals homozygous for these variants or compound heterozygous do not have clinical disease but do have reduced short-chain acyl-CoA dehydrogenase (SCAD) activity, resulting in elevated blood and urine metabolites. As part of a larger study of the potential role of exome sequencing in NBS in California, we reviewed ACADS sequence and MS/MS data from DBSs from a cohort of 74 patients identified to have SCADD. Of this cohort, approximately 60% had one or more of the common variants and did not have the two rare variants, and thus would need no further testing. Retrospective analysis of ethylmalonic acid, glutaric acid, 2-hydroxyglutaric acid, 3-hydroxyglutaric acid, and methylsuccinic acid demonstrated that second-tier testing applied before the release of the newborn screening result could reduce referrals by over 50% and improve the positive predictive value for SCADD to above 75%.

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Brailova, Marina, Guillaume Clerfond, Romain Trésorier, et al. "Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study." Journal of Clinical Medicine 9, no. 3 (2020): 694. http://dx.doi.org/10.3390/jcm9030694.

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Many inherited metabolic diseases (IMD) have cardiac manifestations. The aim of this study was to estimate the prevalence of IMD in adult patients with hypertrophic cardiomyopathy (HCM) and cardiac rhythm abnormalities that require cardiac implantable electronic devices (CIEDs). The study included a review of the medical files of patients aged 18 to 65 years who were followed in our cardiology department during the period 2010–2017. Metabolic explorations for Fabry disease (FD), mitochondrial cytopathies, and fatty-acid metabolism disorders were carried out in patients with unexplained etiology. The prevalence of IMD in patients with HCM was 5.6% (confidence interval (CI): 2.6–11.6). Six cases of IMD were identified: 1 mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome, 1 Hurler syndrome, 2 Friedreich’s ataxia, 1 FD, and 1 short-chain acyl-CoA dehydrogenase deficiency. Three cases of IMD were identified in patients requiring CIEDs: 1 patient with Leber hereditary optic neuropathy, 1 FD, and 1 short chain acyl-CoA dehydrogenase (SCAD) deficiency. IMD prevalence in patients with CIEDs was 3.1% (CI: 1.1–8.8). IMD evaluation should be performed in unexplained HCM and cardiac rhythm abnormalities adult patients, since the prevalence of IMD is relatively important and they could benefit from specific treatment and family diagnosis.

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Repic Lampret, Barbka, Simona Murko, Marusa Debeljak, Mojca Zerjav Tansek, Petja Fister, and Tadej Battelino. "A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)." Biochemia Medica 25, no. 2 (2015): 279–84. http://dx.doi.org/10.11613/bm.2015.029.

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Fequiere, P., B. Wong, L. Miles, N. Gregersen, L. Wong, and R. Hopkin. "M.P.4.16 Atypical clinical presentation of an infant with short chain acyl-CoA dehydrogenase (SCAD) deficiency." Neuromuscular Disorders 17, no. 9-10 (2007): 864. http://dx.doi.org/10.1016/j.nmd.2007.06.342.

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5

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 deficiency are hypoglycemia, fatigue, poor weight gain or growth, encephalopathy, Reye-like syndrome, genetic testing, neuro imaging and Electro encephalogram (EEG) estimations can assist in differentiating epilepsy from MCAD deficiency. Finally it is concluded that treatment is linked to carefully planned diet, carbohydrate - rich diet, medium - chain triglyceride (MCT) oil and genetic counselling.</em>

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Amendt, Brad A., Betty A. Norbeck, Anne M. Moon, William J. Rhead та J. Robillard. "1189 A NEW DEFECT OF β-OXIDATION: SHORT CHAIN ACYL-COA DEHYDROGENASE (SCADH) DEFICIENCY". Pediatric Research 19, № 4 (1985): 309A. http://dx.doi.org/10.1203/00006450-198504000-01219.

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7

Wang, Shuting, Junhong Leng, Chengming Diao, Yuan Wang та Rongxiu Zheng. "Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population". Journal of Pediatric Endocrinology and Metabolism 33, № 6 (2020): 683–90. http://dx.doi.org/10.1515/jpem-2019-0551.

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AbstractBackgroundFatty acid β-oxidation disorders (FAODs) include more than 15 distinct disorders and have a wide variety of symptoms, usually not evident between episodes of acute decompensation. After the introduction of newborn screening (NBS) using tandem mass spectrometry (MS/MS), early identification of FAODs has become feasible. We analyzed the MS/MS results in Tianjin, China during a six-year period to evaluate the incidence, disease spectrum, and genetic characteristics of FAODs.MethodsWe analyzed the MS/MS results for screening FAODs from May 2013 to December 2018 in Tianjin, China. Infants with positive screening results were confirmed through next-generation sequencing and validated by Sanger sequencing.ResultsA total of 220,443 infants were screened and 25 FAODs patients were identified (1:8,817). Primary carnitine deficiency (PCD) with an incidence rate up to 1:20,040 was the most common disorder among all FAODs. Recurrent mutations of relatively common diseases, like PCD and short-chain acyl-CoA dehydrogenase deficiency (SCADD), were identified. During the follow-up, two patients suffered from sudden death due to carnitine palmitoyl transferase-Ⅱ deficiency (CPT Ⅱ) and very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD).ConclusionOur data indicated that FAODs are relatively common in Tianjin and may even cause infant death in certain cases. The elucidated disease spectrum and genetic backgrounds elucidated in this study may contribute to the treatment and prenatal genetic counseling of FAODs.

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Papadopoulou, Maria, Iokasti Koutsampasopoulou, Despoina Tramma, Athanassios Evangeliou, and Kyriaki Papadopoulou-Legbelou. "Broadening the Picture of Short-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report with Microcephaly, Leukoencephalopathy, and Characteristic Magnetic Resonance Spectroscopic Findings." Journal of Pediatric Neurology 16, no. 04 (2017): 243–47. http://dx.doi.org/10.1055/s-0037-1607997.

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AbstractShort-chain acyl-CoA dehydrogenase deficiency (SCADD) is a mitochondrial fatty acid metabolism disorder, which results in the accumulation of butyrylcarnitine and ethylmalonic acid in blood and urine. Evidence of genotype/phenotype correlation and neuroimaging characteristics is limited compared with other inborn errors of metabolism. We report a male patient with SCADD who initially presented with seizures, metabolic acidosis, microcephaly, and developmental delay with gradual amelioration of most symptoms. MRI/MRS revealed extended multifocal leukoencephalopathy, disturbed myelination, and abnormal brain energy metabolism with low choline/creatine ratio, which indicate the need for MRI/MRS follow-up even for asymptomatic patients with SCADD.

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Messina, MariaAnna, Alessia Arena, Agata Fiumara, Riccardo Iacobacci, Concetta Meli, and Federica Raudino. "Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency." International Journal of Neonatal Screening 6, no. 3 (2020): 58. http://dx.doi.org/10.3390/ijns6030058.

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Early detection of disabling diseases, prior to clinical manifestations, is the primary goal of newborn screening (NS). Indeed, the required number of core and secondary conditions selected for screening panels is increasing in many countries. Furthermore, newborn screening can lead to diagnosis of maternal diseases such as vitamin B12 deficiency or 3-MethylcrotonylCoA-carboxylase deficiency (3MCC). NS became mandatory in Sicily in December 2017. Here we report NS data collected between December 2017 and April 2020. Our results show that tandem mass spectrometry is a powerful tool for discovery of underestimated disease in newborns and their family members. Our panel included short chain acyl-CoA dehydrogenase deficiency (SCADD). Here, we report that results of our investigation led to reassessment of SCADD prevalence in our population. The infant and adult patients diagnosed in our study had previously not shown overt symptoms.

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Hu, Haili, Qingqing Ma, Weidong Li, Yan Wang, Wangsheng Song, and Yong Huang. "Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China." International Journal of Neonatal Screening 10, no. 4 (2024): 68. http://dx.doi.org/10.3390/ijns10040068.

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Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation with highly variable biochemical and genetic characteristics. The present study aimed to estimate the prevalence and genetic characteristics of SCADD in newborns identified through screening. A total of 782,930 newborns were screened for SCADD in Hefei Neonatal Screening Center from January 2016 to December 2023. The blood samples from newborns were measured by tandem mass spectrometry (MS/MS). The suspected SCADD neonates were rechecked using next-generation gene sequencing for diagnosis. Sanger sequencing was used to verify the mutation site for patients with SCADD and their parents. A total of 21 SCADD cases were confirmed, with an incidence rate of 1/37,282. Genetic mutations were identified in all 21 cases, including 15 cases of compound heterozygous variation and 6 cases of homozygous variation. Twenty-one different mutation types and forty-two mutation sites were discovered, with the most frequent mutation being c.1031A>G, accounting for 21.43% (9/42), followed by c.1130C>T, accounting for 16.67% (7/42). Our findings expand the SCADD mutational spectra. c. 1031A>G and c.1130C>T are the common mutation sites for SCADD genes in newborns. SCADD diagnosed through NBS is primarily a benign condition, and early diagnosis is not necessarily essential.

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Book chapters on the topic "Short - chain acyl - CoA dehydrogenase (SCAD) deficiency"

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Nyhan, William L., Georg F. Hoffmann, Aida I. Al-Aqeel, and Bruce A. Barshop. "Short-chain acyl CoA dehydrogenase (SCAD) deficiency." In Atlas of Inherited Metabolic Diseases. CRC Press, 2020. http://dx.doi.org/10.1201/9781315114033-42.

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"Short-chain acyl CoA dehydrogenase (SCAD) deficiency." In Atlas of Metabolic Diseases Second edition. CRC Press, 2005. http://dx.doi.org/10.1201/b13565-51.

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3

"Short-chain acyl CoA dehydrogenase deficiency." In Atlas of Inherited Metabolic Diseases 3E. CRC Press, 2011. http://dx.doi.org/10.1201/b15310-46.

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4

"Short/branched chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency." In Atlas of Inherited Metabolic Diseases 3E. CRC Press, 2011. http://dx.doi.org/10.1201/b15310-48.

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Nyhan, William L., Georg F. Hoffmann, Aida I. Al-Aqeel, and Bruce A. Barshop. "Short/branched-chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency." In Atlas of Inherited Metabolic Diseases. CRC Press, 2020. http://dx.doi.org/10.1201/9781315114033-44.

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