Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation
Author:
Publisher
Wiley
Subject
General Medicine,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.2002.tb01674.x/fullpdf
Reference15 articles.
1. Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-Co A dehydrogenase;Corydon;Pediatr Res,1996
2. Identification of four new mutations in the short-chain acyl-Co A dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C>T, is present at an unexpectedly high frequency in the general population, as was the case for 625G > A, together conferring susceptibility to ethylmalonic aciduria;Gregersen;Hum Mol Genet,1998
3. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency;Corydon;Pediatr Res,2001
4. Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship;Gregersen;Hum Mutat,2001
5. Disorders of mitochondrial fatty acyl-CoA beta-oxidation;Wanders;J Inherit Metab Dis,1999
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2. Capillary electrophoresis with capacitively coupled contactless conductivity detection for the determination of urinary ethylmalonic acid for the diagnosis of ethylmalonic aciduria;Journal of Separation Science;2020-04
3. Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms;Journal of Inherited Metabolic Disease;2017-05-17
4. Ethylene Glycol Monomethyl Ether–Induced Toxicity Is Mediated through the Inhibition of Flavoprotein Dehydrogenase Enzyme Family;Toxicological Sciences;2010-07-08
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