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PubMed · 673553

Isovalericacidemia: a case report.

P A Winokur·K Vashistha·R Seshamani
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Abstract

Aminoacidopathies are rare metabolic defects that frequently present shortly after birth or in early infancy with vomiting, dehydration, ketoacidosis, and a peculiar body odor. If not recognized early, these can result in developmental retardation and/or death. A case of isovalericacidemia is reported to emphasize the importance of metabolic screening when an infant presents with the above-mentioned symptoms along with an anion gap greater than 20 mEq/liter. In our patient, a metabolic disorder was suggested by the clinical presentation and was confirmed by measuring elevated levels of biproducts. The infant was given a low-leucine diet and has developed normally since then.

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Amino Acid Metabolism, Inborn ErrorsHumansInfant, NewbornMalePhysical ExaminationValeratesCase ReportsJournal Article

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BibTeXRIS

P A Winokur, K Vashistha, R Seshamani. 1978. Isovalericacidemia: a case report.. https://pubmed.ncbi.nlm.nih.gov/673553/

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