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Article

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.

Nature genetics - 1 Jun 1999

Kobayashi K, Sinasac D S, Iijima M, Boright A P, Begum L, Lee J R, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower M A, Kondo I, Tsui L C, Scherer S W, Saheki T

Abstract excerpt

Citrullinaemia (CTLN) is an autosomal recessive disease caused by deficiency of argininosuccinate synthetase (ASS). Adult-onset type II citrullinaemia (CTLN2) is characterized by a liver-specific ASS deficiency with no abnormalities in hepatic ASS mRNA or the gene ASS (refs 1-17). CTLN2 patients (1/100,000 in Japan) suffer from a disturbance of consciousness and coma, and most die with cerebral edema within a few...

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PMID: 10369257
DOI: 10.1038/9667

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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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The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.PMID 10369257Read ↗

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