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Article

Long-term neurodevelopmental effects of early detection and treatment in a 6-year-old patient with argininaemia diagnosed by newborn screening.

Journal of inherited metabolic disease - 1 Dec 2009

Edwards R L, Moseley K, Watanabe Y, Wong L J, Ottina J, Yano S

Abstract excerpt

Newborn screening makes possible the early identification and treatment of asymptomatic ARG1-deficient patients; however, it is unknown whether early intervention prevents neurological insults. We identified a full-term Hispanic male infant with argininaemia by newborn screening with a serum arginine of 327 µmol/L (reference values 0-140); ARG1 was undetectable on enzyme assay. Sequence analysis of ARG1 revealed...

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Source

Identifiers

PMID: 19562505
DOI: 10.1007/s10545-009-1148-2

Genes

ARG1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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