Successful heterozygous living donor liver transplantation for an oxysterol 7α‐hydroxylase deficiency in a Japanese patient
Tatsuki Mizuochi, Akihiko Kimura, Mitsuyoshi Suzuki, Isao Ueki, Hajime Takei, Hiroshi Nittono, Toshihiko Kakiuchi, Takanobu Shigeta, Seisuke Sakamoto, Akinari Fukuda, Atsuko Nakazawa, Toshiaki Shimizu, Takao Kurosawa, Mureo Kasahara – 12 May 2011 – Only 2 patients with an oxysterol 7α‐hydroxylase deficiency caused by mutations of the cytochrome P450 7B1 (CYP7B1) gene have been reported; for both, the outcome was fatal. We describe the clinical and laboratory features, the hepatic and renal histological findings, and the results of bile acid and CYP7B1 gene analyses for a third patient.