title: Tyrosinemia Typel: A case report.
abstract: Tyrosinemia type 1 is an inherited metabolic disorder attributable to deficiency of fumarylacetoacetate hydrolase enzyme. Here we report an eight month-old male Saudi infant who presented with jaundice, fever, and disturbed level of consciousness accompanied by abdominal distension, hepatomegaly and ascites with features suggestive of rickets. The diagnosis of tyrosinemia typ 1was confirmed based on clinical and biochemical findings.
authors: Department of Pediatrics , King Fahd Hospital, Al Baha , Saudi Arabia.
authors: Mohmood M
authors: MM
authors: Rashad
authors: Department of Pediatrics , King Fahd Hospital, Al Baha , Saudi Arabia.
authors: Carmen
authors: C
authors: Nassar
keywords: Child; Inherited metabolic disorder; Saudi Arabia; Tyrosinemia type I