title: First case report of short-chain acyl-CoA dehydrogenase deficiency in China.
abstract: Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive inborn error of mitochondrial fatty acid oxidation. It is caused by rare mutations as well as polymorphic susceptibility variants. We describe here the case of a 1-year-old male patient who had growth and mental retardation, seizures, and recurring fever since infancy. Urinary gas chromatography/mass spectrometry (GC/MS) showed elevated levels of ethylmalonic acid. Plasma acylcarnitines on tandem mass spectrometry (MS/MS) and elevations of C4-cartinitine are consistently present. The two polymorphic susceptibility variants of the short-chain acyl-CoA dehydrogenase (SCAD) gene, c.625G>A and c.322G>A, were detected. Because of its highly variable clinical characteristics, there are no related reports in China. This report broadens the phenotype and genotype of SCADD in China and underlines the difficulty of diagnosis.
authors.affiliation: Department of Endocrinology and Metabolisms, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong, China.
authors.forename: MinYan
authors.initials: M
authors.lastname: Jiang
authors.forename: Li
authors.initials: L
authors.lastname: Liu
authors.forename: MinZhi
authors.initials: M
authors.lastname: Peng
authors.forename: CuiLi
authors.initials: C
authors.lastname: Liang
authors.forename: HuiYing
authors.initials: H
authors.lastname: Sheng
authors.forename: YanNa
authors.initials: Y
authors.lastname: Cai
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency / Q000235:genetics; D044926:Butyryl-CoA Dehydrogenase / Q000235:genetics; D002681:China; D005838:Genotype; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D012640:Seizures / Q000150:complications / Q000151:congenital / Q000175:diagnosis / Q000235:genetics
chemical_list: D044926:Butyryl-CoA Dehydrogenase; D042964:Acyl-CoA Dehydrogenase