Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.
case_report · Level V
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- Record sourced from PubMed, PMID 11343052.
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Abstract
Adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. Adult-onset type II citrullinemia may be associated with infantile cholestatic disease.
Medical subject headings
- Cholestasis
- Citrullinemia
- Jaundice, Neonatal