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Case Report

Acute Tyrosinemia Type 1 in a 5 Month Old Korean Boy

Si Houn Hahn, Ki Soo Pai, Ki Bum Lee, Kwang Hwa Park, Ok Hwa Kim, Chang Ho Hong, Baek Lin Eun, Seiji Yamaguchi

Clin Exp Pediatr. 1996;39(6):866-872. Published online June 15, 1996

Tyrosinemia type 1 is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase(FAH). The disease is characterized by hepatic dysfuntion, hepatocellular carcinomas, renal tubular dysfunction, rickets, and neurologic crises. Two forms of the disease, acute and chronic, are thought to be from the residual enzyme activity in the liver. The diagnosis of the tyrosinemia type 1 is suggested by...

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