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Article

Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.

European journal of pediatrics - 1 Nov 2002

Tamamori Akiko, Okano Yoshiyuki, Ozaki Hajime, Fujimoto Akie, Kajiwara Masue, Fukuda Kazuyoshi, Kobayashi Keiko, Saheki Takeyori, Tagami Yasuko, Yamano Tsunekazu

Abstract excerpt

UNLABELLED: Adult-onset type 2 citrullinaemia (CTLN2) is caused by a deficiency of the citrin protein encoded by the SLC25A13 gene. Citrin, an aspartate glutamate carrier in mitochondria, is an essential component of the malate-aspartate NADH shuttle. Recently, citrin deficiency has been reported to manifest as neonatal intrahepatic cholestasis. We report here five cases with neonatal intrahepatic cholestasis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 12424587
DOI: 10.1007/s00431-002-1045-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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