Open access
Aug 2026
Tyrosinemia type 1: a case report
Background . Hereditary Tyrosinemia Type 1 (HT1) is an orphan disease belonging to the group of amino acid metabolism disorders, with an autosomal recessive pattern of inheritance. It is caused by a mutation in the FAH gene, which encodes the enzyme fumarylacetoacetate hydrolase. The clinical presentation is polymor...
T. Astakhova, T. Bairova, A. V. Belskikh et al.
· Acta Biomedica Scientia · 0 citations