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Case Report
Two Cases of Acute Form of Tyrosinemia Type I
Kyu Tae Kim, Young Mi Kim, Su Eun Park, Sang Ook Nam, Jae Hong Park
Clin Exp Pediatr. 2002;45(1):131-136.   Published online January 15, 2002
Tyrosinemia type I is an autosomal recessive disorder of amino acid metabolism and is caused by a deficiency of fumarylacetoacetate hydrolase(FAH), the last enzyme in the catabolic pathway of tyrosine. The disease is characterized by hepatic dysfunction, hepatocellular carcinomas, renal tubular dysfunction, rickets, and neurologic crises. We experienced 2 cases(a 4-day-old girl, a 7- month-old girl) of acute form of tyrosinemia type I. Case...
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