Long-term outcome of living donor liver transplantation in a Thai boy with hereditary tyrosinemia type I: a case report

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...

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Bibliographic Details
Published in:	Journal of the Medical Association of Thailand Vol. 94; no. 10; p. 1276
Main Authors:	Jitraruch, Suttiruk, Treepongkaruna, Suporn, Teeraratkul, Sumate, Wattanasirichaigoon, Duangrurdee, Leelaudomlipi, Surasak, Sornmayura, Pattana, Viengteerawat, Somchai, Sriphojanart, Suthus
Format:	Journal Article
Language:	English
Published:	Thailand 01-10-2011
Subjects:	Asian Continental Ancestry Group Diet Therapy Heptanoates - urine Humans Hydrolases - genetics Infant Liver Failure - etiology Liver Failure - therapy Liver Transplantation Living Donors Male Mutation Phenylalanine - metabolism Thailand Treatment Outcome Tyrosine - metabolism Tyrosinemias - diagnosis Tyrosinemias - genetics Tyrosinemias - therapy Thailand
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Summary:	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. Liver transplantation is a promising treatment for patients with HT-1 when NTBC is unavailable, resulting in a good long-term outcome.
ISSN:	0125-2208