It is very rare to find reports concerning a drug therapy successively treating chromosomal abnormalities. In this paper, we are reporting a successive use of nitisinone in treating a fatal and very rare autosomal disease called hereditary tyrosinemia type-1 [HT-1]. HT-1 is affecting about one person in 100,000 to 120,000 births worldwide. It is due to a genetic defect in the enzyme fumarylacetoacetate hydroxylase (FAH), which is responsible for the final degradation of tyrosine. Accumulation of tyrosine metabolites is responsible for tissue damage such as liver, kidney, and neural tissues, finally causing the death of the newborn babies in their early months of life if not treated. Fumarylacetoacetate hydrolase gen has mapped on chromosome 15q23-15q25. Since 1992, the initiation of treating HT-1 with nitisinone (NTBC) has become the medical therapy of choice in combination with diet. NTBC therapy has shown a direct correlation between age of initiation and subsequent clinical course. We are reporting three brothers treated safely and successively with NTBC in combination with diet. All of them are in very good conditions. The elder brother is on NTBC since 27 years ago.
Part of the book: Drug Discovery and Development