英语词汇“methylglutaconic aciduria type 5”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	methylglutaconic aciduria type 5
释义	EncyclopediaSeeDCMA methylglutaconic aciduria type 5 methylglutaconic aciduria type 5 An autosomal recessive disorder (OMIM:610198) characterised by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia with major motor delays, testicular dysgenesis and significant increases in urine organic acids, especially 3-methylglutaconic acid and 3-methylglutaric acid. Molecular pathology Caused by defects of DNAJC19, which encodes a translocase that transports peptides to the mitochondrial matrix.
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