Article
Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13.
Metabolism: clinical and experimental - 1 Dec 2005
Takaya Junji, Kobayashi Keiko, Ohashi Atsushi, Ushikai Miharu, Tabata Ayako, Fujimoto Sachiko, Yamato Fumiko, Saheki Takeyori, Kobayashi Yohnosuke
Abstract excerpt
Deficiency of citrin due to mutations of the SLC25A13 gene causes not only adult-onset type II citrullinemia, but also neonatal intrahepatic cholestasis. Neonatal intrahepatic cholestasis is a self-limiting condition and spontaneously disappears by 12 months of age without special treatment. The natural history of patients with SLC25A13 mutations is not clear. Two patients with infantile hepatic dysfunction were...
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