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Article

Neonatal cholestasis: an uncommon presentation of hyperargininemia.

Journal of inherited metabolic disease - 1 Dec 2010

Gomes Martins Esmeralda, Santos Silva Ermelinda, Vilarinho Silvia, Saudubray Jean Marie, Vilarinho Laura

Abstract excerpt

Hyperargininemia is a rare inborn error of metabolism due to arginase deficiency, which is inherited in an autossomal recessive manner. Arginase is the final enzyme of the urea cycle and catalyzes the conversion of arginine to urea and ornithine. This condition typically presents in early childho...

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Identifiers

PMID: 21229317
DOI: 10.1007/s10545-010-9263-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21229317-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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