In @entity196 (McKusick 276700), fatal @entity409 results either because of @entity1578 during infancy or early childhood or because of development of @entity157 during childhood or adolescence. This is caused by toxic metabolites which accumulate because of @entity5302 , the last enzyme in the @entity669 catabolic pathway. NTBC is a potent inhibitor of @entity70459 and has been shown to efficiently prevent @entity669 degradation, and production of @entity52729 , in @entity1 with tyrosinaemia. Since the first trial of NTBC treatment for @entity196 in 1991, over 220 @entity1 have been treated by the drug using a protocol which includes regular follow-up with reports of clinical and laboratory investigations to the study centre in Gothenburg, where additional analysis of critical variables is done on regularly collected samples. The course of the disease in @entity1 with acute tyrosinaemia has changed dramatically. Only 10% of the @entity1 have not clinically responded to NTBC treatment. In half of these @entity1 , successful liver transplantation has been performed which has further reduced the mortality rate during infancy to 5%. The international NTBC study has now been going for 5 years and data have emerged that indicate a decreased risk for early development of @entity157 in @entity1 who started treatment at an early age. There are now 101 @entity1 aged 2-8 years who have started NTBC treatment before 2 years of age, and no @entity5 has developed after 2 years of age among these @entity1 . However, there is no safe age with respect to occurrence of @entity96 , which has been recognized at diagnosis at 1 year of age in one @entity1 and after a few months of treatment in an @entity1 who was given NTBC at 5 months of age.

XXXX and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).

@entity1 :: ('9606', 'Species') :: ['patients', 'infant', 'patient'] @entity96 :: ('MESH:D008113', 'Disease') :: ['liver cancer'] @entity5 :: ('MESH:D009369', 'Disease') :: ['cancer'] @entity409 :: ('MESH:D008107', 'Disease') :: ['liver disease'] @entity70459 :: ('3242', 'Gene') :: ['4-hydroxyphenylpyruvate dioxygenase'] @entity1578 :: ('MESH:D017093', 'Disease') :: ['liver failure'] @entity196 :: ('MESH:D020754', 'Disease') :: ['tyrosinaemia type I'] @entity52729 :: ('MESH:C020804', 'Chemical') :: ['succinylacetone'] @entity5302 :: ('MESH:D020176', 'Disease') :: ['deficiency of fumarylacetoacetase'] @entity157 :: ('MESH:D006528', 'Disease') :: ['hepatocellular carcinoma'] @entity669 :: ('CHEBI:18186', 'Chemical') :: ['tyrosine']
@entity196 :: (MESH:D020754,Disease) :: ['Tyrosinaemia type I']
