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Korean Journal of Pediatrics 2004;47(1):111-114.
A Case of Tyrosinemia Type 1 with Cytomegalovirus Infection
Jin Hyung Cho, Kyu Jin Shim, Sung Koo Kim, Seon Hee Shin, Kon Hee Lee, Hae Sun Yun
Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea
거대 세포 바이러스 감염이 동반된 1형 타이로신 혈증 1례
조진형, 심규진, 김성구, 신선희, 이건희, 윤혜선
한림대학교 의과대학 소아과학교실
Correspondence:  Sung Koo Kim,
Email: NUNONI@hitel.net
Abstract
Tyrosinemia type 1 is an autosomal recessive inborn error of tyrosine metabolism that caused a mutation in the gene coding for the enzyme fumarylacetoacetate hydrolase(FAH). As a result, maleylacetoacetate(MAA) and fumarylacetoacetate(FAA) are formed. The accumulated FAA is converted into succinylacetone(SA) and succinylacetoacetate(SAA) which are excreted in urine. The first report with typical clinical and biochemical findings was presented by Sakai in 1957. Clinically, the disorder is characterized by progressive liver damage with liver failure, a high risk of hepatocellular carcinoma and renal tubular dysfunction hypophosphataemic rickets. Some patients have porphyria-like episodes. Liver transplantation has been the ultimate treatment of tyrosinemia. However pharmacological therapy with 2-(2-nitro-4-trifluoromethylbenzoyl) -1,3-cyclohexanedione(NTBC) has offered a new therapeutic option in addition to dietary restriction of tyrosine and phenylalanine. We experienced a case of tyrosinemia type 1 with cytomegalovirus infection in a 4-month-old male who improved by dietary restriction of tyrosine and phenylalanine.
Key Words: Hereditary tyrosinemia type I, Fumarylacetoacetate hydrolase


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