Hereditary tyrosinemia type 1
Classified as an orphan disease, hereditary tyrosinemia type 1 affects one person out of 200,000 worldwide, but is especially prevalent in Québec with about one hundred persons affected.
This is an inherited condition caused by a defect in the degradation of an amino acid, tyrosine. The disease can cause severe liver damage, kidney failure and neurological manifestations.
Nitisinone is used to treat hereditary tyrosinemia type 1 in combination with adherence to a reduced tyrosine dietary regime.