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Article

Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome.

Journal of child neurology - 1 Aug 2010

Debray François-Guillaume, Lambert Marie, Allard Pierre, Mitchell Grant A

Abstract excerpt

Two siblings presented with encephalopathy, lactic acidosis, and hypocitrullinemia. Muscle and liver biopsies were considered for respiratory chain studies, but because of hypocitrullinemia, molecular analysis for maternally inherited Leigh syndrome was first performed, revealing in both siblings the mitochondrial DNA T8993G mutation (95% heteroplasmy), allowing to avoid tissue biopsies. Hypocitrullinemia, an...

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Identifiers

PMID: 20472868
DOI: 10.1177/0883073809351983

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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