title: [Hyperaminoaciduria in children].
abstract: Hyperaminoaciduria is a major disorder to be considered in the event of growth and mental retardation, convulsion and other unexplained clinical symptoms. This review should enable the general practitioner to determine the conditions necessitating urinary and blood amino acid analyses in order to improve the treatment of children presenting rare pathologies, the prognosis of whom depends on the rapidity of the intervention. The diagnosis and treatment of hereditary and renal hyperaminoaciduria are discussed and a physiological and physiopathological synthesis of the tubular reabsorption of amino acids is presented. The different clinical entities associated with hyperaminoaciduria are then briefly described according to their origin (renal or prerenal).
authors.affiliation: Service de pédiatrie, CHUV, Lausanne.
authors.forename: M
authors.initials: M
authors.lastname: Boulos
authors.forename: O
authors.initials: O
authors.lastname: Boulat
authors.forename: J P
authors.initials: JP
authors.lastname: Guignard
authors.forename: J M
authors.initials: JM
authors.lastname: Matthieu
mesh_terms: D002648:Child; D006801:Humans; D000608:Renal Aminoacidurias / Q000175:diagnosis