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.
Pediatric Liver Clinic, Bai Jerbai Wadia Hospital for Children, Acharya Donde Marg, Lower Parel, Mumbai, 400 012, India. irashah@pediatriconcall.com.
Ira
I
Shah
Pediatric Liver Clinic, Bai Jerbai Wadia Hospital for Children, Acharya Donde Marg, Lower Parel, Mumbai, 400 012, India.
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F
Shah
D002675:Child, Preschool; D003512:Cyclohexanones / Q000008:administration & dosage*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009579:Nitrobenzoates / Q000008:administration & dosage*; D016896:Treatment Outcome; D020176:Tyrosinemias / Q000188:drug therapy*
D003512:Cyclohexanones; D009579:Nitrobenzoates; C077073:nitisinone
Children; NTBC; Tyrosinemia