Tyrosinemia type I: Case series with response to treatment to NTBC.

We present four children with tyrosinemia and their response to NTBC [2-[2-nitro-4-trifluoromethylbenzoyl]-1, 3-cyclohexanedione]. One child received NTBC for only 3 months after which he was diagnosed to have hepatocellular carcinoma and underwent a living-related liver transplantation. The child is doing well post-transplant. Remaining three children have been on NTBC for almost 3 years, have normal liver functions, undetectable urine succinylacetone, and no portal hypertension or renal tubular acidosis.