Article
[Phenotypic expression variation of isovaleric acidemia in Argentinian patients. A long term follow-up].
Medicina - 1 Jan 1992
Dodelson de Kremer R, Depetris de Boldini C, Paschini de Capra A, Hliba E, Corbella L
Abstract excerpt
In this paper we discuss the first five Argentinean patients presenting isovaleric acidemia (IVA), an alteration of leucine catabolism due to a genetic defect of isovaleryl-CoA dehydrogenase. Belonging to unrelated families, one from native (H. Fam.) and the other from Italian ancestry (M. Fam.); the patients presented the clinical pattern highly suggestive of the disease: they were siblings, had disease-free...
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