title: [Argininosuccinic aciduria. A new case revealed by psychiatric disorders].
abstract: The case of a 4 years old boy, hospitalized for an unexplained coma, is reported. He is the first child of a non-consanguin couple. The psychomotor development of this child was considered as normal up to the age of 18 months; then, a delay in language development, behaviour disorders with an important instability interrupted by episodes of somnolence, were observed. This child was treated for psychotic disorders. At the age of 3 and half, he had two episodes of seizures associated with fever. He was hospitalized for a 24 hours coma (4 years old). An hepatomegaly and a dry, brittle hair were then observed. Hyperammonemia was made obvious by a protein tolerance test. The diagnosis of argininosuccinate lyase (ASAL) deficiency was based on the increased levels of ASA in plasma and urine. The deficiency was proved by a fibroblast culture. With protein restriction, hepatomegaly disappeared, hair became normal, the behaviour disorders and the delay in language development was improved. However, some school difficulties persist. This case shows that an hereditary metabolic syndrome can be revealed by psychotic like symptoms in childhood.
authors.affiliation: Pédiatrie-Génétique Médicale, CHU de Rennes.
authors.forename: S
authors.initials: S
authors.lastname: Odent
authors.forename: M
authors.initials: M
authors.lastname: Roussey
authors.forename: H
authors.initials: H
authors.lastname: Journel
authors.forename: P
authors.initials: P
authors.lastname: Betremieux
authors.forename: V
authors.initials: V
authors.lastname: David
authors.forename: B
authors.initials: B
authors.lastname: Le Marec
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000523:psychology*; D001120:Arginine / Q000031:analogs & derivatives*; D001125:Argininosuccinic Acid / Q000652:urine*; D056807:Argininosuccinic Aciduria; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D008297:Male; D010641:Phenotype
chemical_list: D001125:Argininosuccinic Acid; D001120:Arginine
vernacular_title: L'acidurie argininosuccinique: à propos d'un nouveau cas révélé par des troubles psychiatriques.