MeSH Browser

MeSH Supplementary: Acidemia, isovaleric
Unique ID: C538167
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538167
Entry Term(s): Isovaleric Acid-CoA Dehydrogenase Deficiency; Isovaleric acid CoA dehydrogenase deficiency; Isovaleric acidemia; Isovaleryl CoA carboxylase deficiency; Isovaleryl-CoA Dehydrogenase Deficiency
Registry Number: 0
Heading Mapped to: *Amino Acid Metabolism, Inborn Errors; Isovaleryl-CoA Dehydrogenase / *deficiency
Frequency: 51
Note: A rare hereditary, autosomal recessive metabolic disorder. Two forms of isovaleric acidemia, possibly allelic, are recognized: the acute neonatal form, leading to massive ACIDOSIS and rapid death in the first days of life, and a chronic form in which periodic attacks of severe KETOSIS occur with asymptomatic intervening periods. Mutations in the IVD gene have been identified. OMIM: 243500
Date of Entry: 2010/06/25
Revision Date: 2019/06/18

Acidemia, isovaleric MeSH Supplementary Concept Data 2024