Clinical practice. NTBC therapy for tyrosinemia type 1: how much is enough?

摘要: UNLABELLED Four patients with tyrosinemia type 1 (ages 6-32 months) were treated 2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexandion (NTBC) at Cairo University Children's Hospital, Egypt and followed up for 12-27 months. The recommended average dose of NTBC is mg/kg/day. They started on the following doses: 0.8, 0.58, 0.5, 0.625 mg/kg/day, respectively. Two months after start therapy, succinylacetone was undetectable in 1, 2, 4, while case 3, it 5.4 microM. Her increased from 0.5 to 0.65 month later. kept doses ranging 0.55 These allowed catch growth, normalization synthetic liver functions, steep drop serum alpha fetoprotein, reduction phosphate loss urine, calcium, phosphate, alkaline phosphatase, healing active rickets. Succinylacetone urine these doses. IN CONCLUSION Doses NTBC, lower than recommended, may be helpful treatment tyrosinemia, condition that production suppressed, AFP maintained normal or showing a progressive decrease. This cost-effective allow affected children economically underprivileged countries, but longer follow periods are needed.