Title : Aspects of Newborn Screening in Isovaleric Acidemia.

Pub. Date : 2018 Mar

PMID : 33072933






1 Functional Relationships(s)
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1 Isovaleric acidemia (IVA), an inborn error of leucine catabolism, is caused by mutations in the isovaleryl-CoA dehydrogenase (IVD) gene, resulting in the accumulation of derivatives of isovaleryl-CoA including isovaleryl (C5)-carnitine, the marker metabolite used for newborn screening (NBS). isovaleryl-coenzyme A isovaleryl-CoA dehydrogenase Homo sapiens