Ontology highlight
ABSTRACT:
SUBMITTER: Zhang MH
PROVIDER: S-EPMC4476898 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Zhang Mei-Hong MH Gong Jing-Yu JY Wang Jian-She JS
World journal of gastroenterology 20150601 23
Citrin deficiency typically presents as neonatal intrahepatic cholestasis and resolves in late infancy. Here we report a case of citrin deficiency that presented as acute liver failure in late infancy in an apparently healthy child. The full-term male infant weighed 3400 g at birth, and exhibited normal development for eight months, at which time he contracted bronchial pneumonia. The infant developed jaundice and laboratory tests indicated elevated bilirubin and ammonia levels and an abnormal c ...[more]