[Phenotypic expression variation of isovaleric acidemia in Argentinian patients. A long term follow-up].

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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...

Topics

Acidosis
Brain
Child, Preschool
Chromatography, Thin Layer
Family
Female
Follow-Up Studies
Glycine
Hemiterpenes
Humans
Infant
Isovaleryl-CoA Dehydrogenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Liver

Male

Oxidoreductases

Oxidoreductases Acting on CH-CH Group Donors

Pentanoic Acids

Phenotype

Source

Open in PubMed

Identifiers

PMID: 1308904

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1308904-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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