Liver transplantation for infantile liver failure secondary to oxysterol-7 alpha hydroxylase deficiency

Abstract

<br>Bile acid synthesis defects (BASDs) are rare inborn errors of metabolism, causing neonatal hepatitis. These disorders are difficult to diagnose, especially in resource-limited settings where extensive laboratory and genetic analysis are not always feasible. A delay in diagnosis and replacement therapy where possible often leads to progressive liver cell failure. We report an infant with BASD (oxysterol-7 alpha hydroxylase deficiency) who had decompensated chronic liver disease and underwent successful living donor liver transplantation.<br>