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Case Report

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

Clin Exp Pediatr. 2004;47(1):111-114. Published online January 15, 2004

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...

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