title: [Citrullinemia: management and clinical course. Apropos of a familial case].
abstract: The authors report two cases of citrullinemia in siblings which add to 68 observations from the literature. They overview the clinical presentation, diagnosis and therapeutic management of the disease. The prognosis of severe neonatal form remains poor but an early adequate management may contribute to an acceptable outcome.
authors.affiliation: Service de pédiatrie, hôpital Nord, Saint-Priest-en-Jarez, France.
authors.forename: C
authors.initials: C
authors.lastname: Gay
authors.forename: H
authors.initials: H
authors.lastname: Tronchon
authors.forename: P
authors.initials: P
authors.lastname: Divry
authors.forename: G
authors.initials: G
authors.lastname: Teyssier
authors.forename: M T
authors.initials: MT
authors.lastname: Freycon
authors.forename: F
authors.initials: F
authors.lastname: Freycon
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D002956:Citrulline / Q000097:blood*; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male
chemical_list: D002956:Citrulline
vernacular_title: La citrullinémie: prise en charge et évolution. A propos d'une observation familiale.