title: [Isovaleric acidaemia--a rare and serious defect in the metabolism of leucine].
abstract: Isovaleric acidaemia (IVA) is an organic acidemia caused by deficient metabolism of the essential amino acid leucine. We describe the biochemistry, diagnostics, and treatment of IVA, and present the known Danish patients.
authors.affiliation: Klinisk Genetisk Afdeling, Rigshospitalet, 2100 København Ø, Denmark. annbritt.lund@gmail.com
authors.forename: Ann-Britt Kiholm
authors.initials: AB
authors.lastname: Lund
authors.forename: Allan Meldgaard
authors.initials: AM
authors.lastname: Lund
mesh_terms: D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D050769:Isovaleryl-CoA Dehydrogenase / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D007930:Leucine / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D015997:Neonatal Screening; D055815:Young Adult
chemical_list: D050769:Isovaleryl-CoA Dehydrogenase; D007930:Leucine