First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China.
作者： CuiLi Liang , MinYan Jiang , HuiYing Sheng , YanNa Cai , DongYan Wu
关键词:
摘要: Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an autosomal recessive inborn error of mitochondrial fatty acid β-oxidation, caused by mutations in the ACADM gene. As it most commonly inherited disorder oxidation Caucasians, there are no related reports China diagnosed molecular genetic testing. We report here case a 2-year-old female patient who had hepatomegaly and abnormal liver function with common illness, been healthy before. marked increase found concentration C8-carnitine help tandem mass spectrometry (MS/MS) profile, as well presence hexanoylglycine cyclohepta acyl glycinate shown urinary gas chromatography/mass (GC/MS) were suggestive MCADD, diagnosis that was confirmed analysis showed compound heterozygosity for missense mutation, c.362C>T(p.Thr121Ile), 4-bp deletion, c.448-453delCTGA, medium-chain (MCAD) gene, also named There China. This broadens phenotype genotype MCADD underlines difficulty diagnosis.
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