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

Abstract

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 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-1 when NTBC is unavailable, resulting in a good long-term outcome.

• Authors: Suttiruk Jitraruch, Suporn Treepongkaruna, Sumate Teeraratkul, Duangrurdee Wattanasirichaigoon, Surasak Leelaudomlipi, Pattana Sornmayura, Somchai Viengteerawat, Suthus Sriphojanart
• Journal: Journal of the Medical Association of Thailand = Chotmaihet thangphaet (J Med Assoc Thai) Vol. 94 Issue 10 Pg. 1276-80 (Oct 2011) ISSN: 0125-2208 [Print] Thailand
• PMID: 22145516 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Heptanoates
• Tyrosine
• Phenylalanine
• succinylacetone
• Hydrolases
• fumarylacetoacetase

Topics

• Asian People
• Diet Therapy
• Heptanoates (urine)
• Humans
• Hydrolases (genetics)
• Infant
• Liver Failure (etiology, therapy)
• Liver Transplantation
• Living Donors
• Male
• Mutation
• Phenylalanine (metabolism)
• Thailand
• Treatment Outcome
• Tyrosine (metabolism)
• Tyrosinemias (diagnosis, genetics, therapy)