title: Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I.
abstract: We report the case of a child who developed severe obstructive hypertrophic cardiomyopathy revealing hereditary tyrosinaemia type I, who was successfully treated with NTBC. The mechanisms underlying the association are discussed.
authors.affiliation: Multidisciplinary Pediatric Department, Children's Hospital of La Timone, Boulevard Jean Moulin, 13885, Marseille Cedex 5, France. nicolas.andre@mail.ap-hm.fr
authors.forename: N
authors.initials: N
authors.lastname: André
authors.forename: B
authors.initials: B
authors.lastname: Roquelaure
authors.forename: V
authors.initials: V
authors.lastname: Jubin
authors.forename: C
authors.initials: C
authors.lastname: Ovaert
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy; D002312:Cardiomyopathy, Hypertrophic / Q000628:therapy*; D003512:Cyclohexanones / Q000494:pharmacology*; D004452:Echocardiography; D004791:Enzyme Inhibitors / Q000494:pharmacology; D006801:Humans; D017379:Hypertrophy, Left Ventricular; D007223:Infant; D008297:Male; D009579:Nitrobenzoates / Q000494:pharmacology*; D014443:Tyrosine / Q000097:blood; D020176:Tyrosinemias / Q000188:drug therapy*
chemical_list: D003512:Cyclohexanones; D004791:Enzyme Inhibitors; D009579:Nitrobenzoates; D014443:Tyrosine; C077073:nitisinone