Abstract
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.
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Shah, I., Shah, F. Tyrosinemia type I: Case series with response to treatment to NTBC. Indian J Gastroenterol 35, 229–231 (2016). https://doi.org/10.1007/s12664-016-0650-3
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DOI: https://doi.org/10.1007/s12664-016-0650-3