title: Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests.
abstract: Recurrent episodes of bizarre behavior were the only clinical symptoms that finally led to the diagnosis of ornithine transcarbamylase deficiency in an 8-year-old boy. The suspected diagnosis could not be confirmed with the use of current challenge tests. The response to a high-protein diet for 24 hours appeared to be a helpful diagnostic aid.
authors.affiliation: Department of Pediatrics, Hôpital Necker Enfants Malades, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Spada
authors.forename: O
authors.initials: O
authors.lastname: Guardamagna
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: S B
authors.initials: SB
authors.lastname: van der Meer
authors.forename: P
authors.initials: P
authors.lastname: Parvy
authors.forename: J
authors.initials: J
authors.lastname: Bardet
authors.forename: A
authors.initials: A
authors.lastname: Ponzone
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
mesh_terms: D000493:Allopurinol; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis*; D002653:Child Behavior Disorders / Q000209:etiology*; D002675:Child, Preschool; D003951:Diagnostic Errors; D004044:Dietary Proteins; D006579:Heterozygote; D006801:Humans; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease
chemical_list: D004044:Dietary Proteins; D000493:Allopurinol