title: Long-term outcome of living donor liver transplantation in a Thai boy with hereditary tyrosinemia type I: a case report.
abstract: 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 on tyrosine and phenylalanine restricted diet immediately. Due to a limitation of 2-(2-nitro-4-trifluoromethyl benzoyl)-1,3-cyclohexanedione (NTBC) therapy in Thailand, it was commenced at eight months old and used as a bridging therapy before liver transplantation. He had a good response to NTBC therapy with an improvement in liver chemistries and synthetic functions. Subsequently, living donor liver transplantation (LDLT) was performed at 15 months old Long-term follow-up for 6.3 years following LDLT revealed normal growth, good school performance, normal liver, renal tubular, and glomerular functions, and without urinary excretion of succinylacetone.
  
  
  CONCLUSIONS
  Liver transplantation is a promising treatment for patients with HT-1 when NTBC is unavailable, resulting in a good long-term outcome.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Suttiruk
authors.initials: S
authors.lastname: Jitraruch
authors.forename: Suporn
authors.initials: S
authors.lastname: Treepongkaruna
authors.forename: Sumate
authors.initials: S
authors.lastname: Teeraratkul
authors.forename: Duangrurdee
authors.initials: D
authors.lastname: Wattanasirichaigoon
authors.forename: Surasak
authors.initials: S
authors.lastname: Leelaudomlipi
authors.forename: Pattana
authors.initials: P
authors.lastname: Sornmayura
authors.forename: Somchai
authors.initials: S
authors.lastname: Viengteerawat
authors.forename: Suthus
authors.initials: S
authors.lastname: Sriphojanart
mesh_terms: D044466:Asian People; D004035:Diet Therapy; D006537:Heptanoates / Q000652:urine; D006801:Humans; D006867:Hydrolases / Q000235:genetics; D007223:Infant; D017093:Liver Failure / Q000209:etiology / Q000628:therapy*; D016031:Liver Transplantation; D019520:Living Donors; D008297:Male; D009154:Mutation; D010649:Phenylalanine / Q000378:metabolism; D013785:Thailand; D016896:Treatment Outcome; D014443:Tyrosine / Q000378:metabolism; D020176:Tyrosinemias / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy
chemical_list: D006537:Heptanoates; D014443:Tyrosine; D010649:Phenylalanine; C020804:succinylacetone; D006867:Hydrolases; C020156:fumarylacetoacetase