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Article

Neonatal presentation of adult-onset type II citrullinemia.

Human genetics - 1 Feb 2001

Ohura T, Kobayashi K, Tazawa Y, Nishi I, Abukawa D, Sakamoto O, Iinuma K, Saheki T

Abstract excerpt

Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific argininosuccinate synthetase deficiency caused by a deficiency of the citrin protein encoded by the SLC25A13 gene. Until now, however, no SLC25A13 mutations have been reported in children with liver diseases. We described three infants who presented as neonates with intrahepatic cholestasis associated with hypermethioninemia or...

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Identifiers

PMID: 11281457
DOI: 10.1007/s004390000448

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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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