Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.
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.
Tazawa
Y
Y
Department of Pediatrics, Faculty of Medicine, Tottori University, Yonago, Japan.
Kobayashi
K
K
Ohura
T
T
Abukawa
D
D
Nishinomiya
F
F
Hosoda
Y
Y
Yamashita
M
M
Nagata
I
I
Kono
Y
Y
Yasuda
T
T
Yamaguchi
N
N
Saheki
T
T
D001706:Biopsy; D002779:Cholestasis / Q000150:complications*; D020159:Citrullinemia / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000150:complications*; D008099:Liver / Q000473:pathology; D008969:Molecular Sequence Data