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中文3-Methylcrotonyl-Coa Carboxylase 1 Deficiency (MCC1D)
Alias:
3-Methylcrotonyl Coa Carboxylase 1 Deficiency
Methylcrotonylglycinuria Type I
Mcc1 Deficiency
Mccd Type 1
Mcc1d
3-Methylcrotonoyl-Coa Carboxylase 1 Deficiency
3 Methylcrotonyl-Coa Carboxylase 1 Deficiency
3-Methylcrotonylglycinuria Type I
3-Methylcrotonylglycinuria I
Mcgi
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3-甲基-3-酮戊二酸-辅酶A羧化酶1缺陷症，也称为3-甲基-3-酮戊二酸-辅酶A羧化酶1缺陷症，与3-甲基-3-酮戊二酸-辅酶A羧化酶缺陷症和3-甲基-3-酮戊二酸-辅酶A羧化酶2缺陷症有关，症状包括嗜睡、癫痫发作和呕吐。与3-甲基-3-酮戊二酸-辅酶A羧化酶1缺陷症相关的基因是MCCC1（甲基-3-酮戊二酸-辅酶A羧化酶亚基1），其相关通路/超级通路包括氨基酸代谢和线粒体rRNA加工。相关表型是全球发育延迟和3-羟基异戊酸尿症。
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