was transient due to worsening liver function.
Keywords: Tyrosinaemia type I, Focal hepatic lesion, Pakistani children.
Hereditary tyrosinaemia type I (HT-I) (OMIM 276700) is a rare autosomal recessive disease caused by deficiency of fumarylacetoacetate hydrolase (FAH), which is the last enzyme in tyrosine catabolic pathway.
Urinary succinylacetone presence and S-aminolaevulinic acid excretion in patients with type I tyrosinaemia during treatment.
Neonatal screen for hereditary tyrosinaemia type I [Letter].
At its most recent meeting, on 26-27 October, the Committee for Orphan Medicinal Products issued six positive opinions on the designation of orphan medicinal products, for conditioning treatment prior to hematopoietic progenitor cell transplantation; erythema nodosum leprosum or type II lepra reactions; essential thrombocythaemia; Huntington's Disease; primary and certain forms of secondary pulmonary hypertension; and tyrosinaemia