Article
A Case Report of a Novel Isovaleryl-CoA Dehydrogenase Gene Mutation in a Chinese Family with Isovaleric Acidemia.
Clinical laboratory - 1 Sept 2023
Chen Wen, Miao Chenglin, Li Yingying, Wang Xia, Wu Wenjing, Long Qichen, Jiang Yongmei, Yan Ziyi, Cui Yali
Abstract excerpt
BACKGROUND: Isovaleric acidemia (IVA) is a rare autosomal-recessive metabolic disorder caused by a genetic deficiency of isovaleryl-CoA dehydrogenase (IVD). Deficiency of IVD leads to the accumulation of organic acids; however, the genotype-phenotype relationship has not been well established. METHODS: Two brothers with acute neonatal IVA in a Chinese family were reported, and their clinical manifestations and...
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