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2-甲基丁酰辅酶A脱氢酶缺陷症

ORPHA:79157· ICD-10 E71.1· 2-methylbutyryl-CoA dehydrogenase deficiency

患病率
<1 / 1 000 000
遗传方式
Autosomal recessive
发病年龄
Infancy, Neonatal