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Article

Cirrhosis in an infant heterozygous for classical citrullinaemia.

Acta paediatrica (Oslo, Norway : 1992) - 1 Dec 2005

Ezgü Fatih Süheyl, Tümer Leyla, Dalgiç Buket, Hasanoĝlu Alev, Kobayashi Keiko, Saheki Takeyori

Abstract excerpt

UNLABELLED: Classical citrullinaemia is caused by the inherited deficiency of argininosuccinate synthetase. Although varying degrees of liver involvement have been observed in urea cycle defects, including classical citrullinaemia, the co-existence of liver failure in a patient heterozygous for the disease has not been reported before. A female infant was investigated to find out the aetiology of early infantile...

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Identifiers

PMID: 16421053
DOI: 10.1111/j.1651-2227.2005.tb01868.x

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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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