酰基辅酶A脱氢酶
生物
外显子
遗传学
突变
基因
脱氢酶
生物化学
酶
作者
Se Hwa Kim,Hyung‐Doo Park,Young Bae Sohn,Sung Won Park,Sung Yoon Cho,Suntae Ji,Su Jin Kim,Eun Wha Choi,Chi Hwa Kim,Ah‐Ra Ko,Sung-Hee Yeau,Kyung‐Hoon Paik,Dong‐Kyu Jin
出处
期刊:PubMed
日期:2011-01-01
卷期号:41 (1): 84-8
被引量:15
摘要
Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) is an autosomal recessive disorder of mitochondrial fatty acid oxidation associated with mutations in the ACADS gene (Acyl-CoA Dehydrogenase, Short-chain, OMIM #606885). SCADD is a heterogeneous condition that has been associated with various clinical phenotypes ranging from fetal metabolic decompensation in infancy to asymptomatic individuals. Here, the first Korean neonate diagnosed with SCADD by biochemical and genetic findings is reported. The patient has remained asymptomatic by avoiding hypoglycemia. An increased concentration of butylcarnitine was detected on newborn screening. Subsequent urine organic acid analysis showed increased urinary excretion of ethylmalonic acid. To confirm the presence of the genetic abnormality, all the coding exons of the ACADS gene and flanking introns were amplified by the polymerase chain reaction (PCR). Sequence analysis of the ACADS gene revealed novel homozygous missence mutations, c. 1031A>G (p.E344G) in exon 9. In summary, the first Korean patient with confirmed SCADD by genetic analysis is reported with novel mutation.
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