Article
Long-term outcome of living donor liver transplantation in a Thai boy with hereditary tyrosinemia type I: a case report.
Journal of the Medical Association of Thailand = Chotmaihet thangphaet - 1 Oct 2011
Jitraruch Suttiruk, Treepongkaruna Suporn, Teeraratkul Sumate, Wattanasirichaigoon Duangrurdee, Leelaudomlipi Surasak, Sornmayura Pattana, Viengteerawat Somchai, Sriphojanart Suthus
Abstract excerpt
UNLABELLED: Hereditary tyrosinemia type I (HT-I) is an autosomal recessive inborn error of tyrosine metabolism, caused by mutation(s) in the gene encoding for fumarylacetoacetate hydrolase (FAH) enzyme. The authors report a Thai boy who presented at two months of age with liver failure. HT-I was diagnosed based on the presence of succinylacetone in urine and homozygous R237X mutations of FAH gene. He was started...
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