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|dc.identifier.citation||Journal of the Medical Association of Thailand. Vol.94, No.10 (2011), 1276-1280||en_US|
|dc.description.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. Conclusion: Liver transplantation is a promising treatment for patients with HT-I when NTBC is unavailable, resulting in a good long-term outcome.||en_US|
|dc.title||Long-Term outcome of living donor liver transplantation in a thai boy with hereditary tyrosinemia type I: A case report||en_US|
|Appears in Collections:||Scopus 2011-2015|
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