Acute Tyrosinemia Type 1 in a 5 Month Old Korean Boy

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

Case Report

Journal of the Korean Pediatric Society 1996;39(6):866-872.
Published online June 15, 1996.

Acute Tyrosinemia Type 1 in a 5 Month Old Korean Boy

Si Houn Hahn¹, Ki Soo Pai¹, Ki Bum Lee², Kwang Hwa Park², Ok Hwa Kim³, Chang Ho Hong¹, Baek Lin Eun⁴, Seiji Yamaguchi⁵

¹Department of Pediatrics, College of Medicine, Ajou University, Suwon, Korea
²Department of Pathology, College of Medicine, Ajou University, Suwon, Korea
³Department of Radiology, College of Medicine, Ajou University, Suwon, Korea
⁴Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea
⁵Department of Pediatrics, Shimane Medical University, Shimane, Japan

제 1형 급성 타이로신혈증 1례

한시훈^¹^, 배기수^¹^, 이기범^²^, 박광화^²^, 김옥화^³^, 홍창호^¹^, 은백린^⁴^, 山口淸次^⁵

^¹아주대학교 소아과
^²아주대학교 해부병리과
^³아주대학교 방사선과
^⁴고려대학교 의과대학 소아과학교실
^⁵日本島根醫科大學小兒科學敎室

Abstract

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 elevated plasmatyrosine,supported by increased urinary succinylacetone, and confirmed by reduced FAH activity in cultured fibroblasts. We had a 5 month old Korean boy with acute tyrosinemia type 1 who presented with recurrent sepsis-like episodes since 2 months of age, progressive liver dysfunction, and rickets. Plasma amino acid analysis showed markedly elevated tyrosine, methionine and urine amino acid analysis was suggestive of Fanconi syndrome showing generalized aminoaciduria. Organic acid analysis by Gas Chromatography/Mass Spectrometry detected large amount of succinylacetone excreted in the urine. Delta-aminolevulinic acid was elevated as well. X-ray findings were characteristics of rickets and abdominal sonogram, CT and MRI revealed cirrhotic liver with varying size of multiple nodules. Liver transplantation was strongly recommended throughout his clinical course but refused by parents, and he died of hepatic failure at the age of 8 months. Autospy was perfomed showing macro and micronodular liver cirrhosis. Kidney was markedly enlarged, however, glomeruli and tubules were relatively unaltered. Mutation analysisis under the study.

Key Words: Tyrosinemiatype1, Acute