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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... |
