J Korean Pediatr Soc.
2002 Jan;45(1):131-136.
Two Cases of Acute Form of Tyrosinemia Type I
- Affiliations
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- 1Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea. pedkkt@hanmail.net
Abstract
- 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 1 was presented with tachypnea, vomiting and prolonged PT and aPTT. Case 2 was presented with systemic jaundice, irritability, an odor resembling boiled cabbage, and hepatic dysfunction. The diagnosis was made by demonstrating elevated plasma levels of tyrsione and other amino acids, and urinary excretion of succinylacetone. Both of the patients had a significant coagulopathy which was not treated by transfusion of fresh frozen plasma and cryoprecipitate. We report two tyrosinemic infants who were presented with severe coagulopathy.
