title: Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients.
abstract: Hereditary tyrosinemia type 1, a common genetic disorder in the province of Quebec, is characterized by a deficiency of fumarylacetoacetate hydrolase. In this autosomal recessive disorder of tyrosine metabolism, the accumulation of succinylacetone leads to neurologic crises, acute and chronic liver failure, complex renal tubulopathy, rickets and a hemorrhagic syndrome. Liver trans- plantation has dramatically modified the spontaneous course of this lethal disease. The present paper describes the imaging features of tyrosinemia in 30 patients followed from 1980 to 1995 at Hôpital Sainte-Justine, Montreal, Canada.
authors.affiliation: Department of Radiology, Hôpital Sainte-Justine, 3175 Côte-Ste-Catherine, Montreal, Quebec H3T 1C5, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Dubois
authors.forename: L
authors.initials: L
authors.lastname: Garel
authors.forename: H
authors.initials: H
authors.lastname: Patriquin
authors.forename: K
authors.initials: K
authors.lastname: Paradis
authors.forename: S
authors.initials: S
authors.lastname: Forget
authors.forename: D
authors.initials: D
authors.lastname: Filiatrault
authors.forename: A
authors.initials: A
authors.lastname: Grignon
authors.forename: P
authors.initials: P
authors.lastname: Russo
authors.forename: D
authors.initials: D
authors.lastname: St-Vil
mesh_terms: D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007668:Kidney / Q000000981:diagnostic imaging*; D008099:Liver / Q000000981:diagnostic imaging*; D016031:Liver Transplantation; D008297:Male; D010179:Pancreas / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed; D014443:Tyrosine / Q000097:blood*; D014463:Ultrasonography
chemical_list: D014443:Tyrosine