Neonatal isovaleric acidemia in China: A case report and review of literature

来源 :世界临床病例杂志 | 被引量 : 0次 | 上传用户：xucaijuan302

【摘要】

：

BACKGROUND Isovaleric acidemia(IVA)is a rare autosomal recessive inherited organic acidemia caused by a genetic deficiency of isovaleryl-CoA dehydrogenase(IVD).

【作者】

：

Fang Wu Shu-Juan Fan Xi-Hui Zh

【机构】

：

DepartmentofNeonatalogy

【出处】

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世界临床病例杂志

【发表日期】

：

2021年2期

【关键词】

：

Isovaleric acidemia Isovaleryl-CoA dehydrogenase Sweaty feet odor Case report Me

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BACKGROUND Isovaleric acidemia(IVA)is a rare autosomal recessive inherited organic acidemia caused by a genetic deficiency of isovaleryl-CoA dehydrogenase(IVD).Its morbidity is low,but mortality is high.There is no effective cure for this disease.Early id

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Neonatal isovaleric acidemia in China: A case report and review of literature

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