Journal of the Korean Pediatric Society 2002;45(1):131-136.
Published online January 15, 2002.
Two Cases of Acute Form of Tyrosinemia Type I
Kyu Tae Kim, Young Mi Kim, Su Eun Park, Sang Ook Nam, Jae Hong Park
Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea
I형 급성형 고타이로신혈증 2례
김규태, 김영미, 박수은, 남상욱, 박재홍
부산대학교 의과대학 소아과학교실
Jae Hong Park, Email:
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.
Key Words: Tyrosinemia, Coagulopathy

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