Isovaleric acidaemia--a rare and serious defect in the metabolism of leucine
Lund, A.-B.K.; Lund, A.M.
Ugeskrift for Laeger 173(15): 1121-1123
2011
ISSN/ISBN: 1603-6824 PMID: 21672462 Document Number: 653002
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.
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