NDLI: First case report of short-chain acyl-CoA dehydrogenase deficiency in China

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First case report of short-chain acyl-CoA dehydrogenase deficiency in China

Content Provider	Semantic Scholar
Author	Jiang, Minyan Liu, Li Peng, Minzhi Liang, Cuili Sheng, Huiying Cai, Yanna
Copyright Year	2012
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.
Starting Page	P181
Ending Page	P181
Page Count	1
File Format	PDF HTM / HTML
Alternate Webpage(s)	http://download-redirector.springer.com/redirect?contentType=pdf&ddsId=art:10.1186/1687-9856-2013-S1-P181&originUrl=http://ijpeonline.biomedcentral.com/article/10.1186/1687-9856-2013-S1-P181
PubMed reference number	3850267
Volume Number	2013
Journal	Journal of pediatric endocrinology & metabolism : JPEM
Language	English
Access Restriction	Open
Subject Keyword	Autosomal recessive inheritance Fatty Acids Flatulence Medium-chain acyl-coenzyme A dehydrogenase deficiency Mental Retardation Mutation Seizures Tandem Mass Spectrometry Yellow Fever acyl-CoA dehydrogenase acylcarnitine ethylmalonic acid fatty acid oxidation
Content Type	Text
Resource Type	Article

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