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Article

Prenatal diagnosis for arginase deficiency by second-trimester fetal erythrocyte arginase assay and first-trimester ARG1 mutation analysis.

Prenatal diagnosis - 1 Nov 2004

Korman Stanley H, Gutman Alisa, Stemmer Edia, Kay Barrie S, Ben-Neriah Ziva, Zeigler Marsha

Abstract excerpt

Hyperargininemia is a progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 gene. We diagnosed arginase deficiency in a three-year-old male child of first-cousin Palestinian Arab parents. Prenatal diagnosis of an unaffected...

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Source

Identifiers

PMID: 15565656
DOI: 10.1002/pd.1000

Genes

ARG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15565656-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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