title: [Alpha-amino adipic aciduria: a rare psychomotor syndrome].
abstract: A 3.5-year-old boy with developmental motor retardation, hypotonicity, and severe speech disturbance had alpha-amino adipic acid in his blood and very high levels in his urine. In only 20 cases has this catabolite of lysine and hydroxylysine been found in high concentrations in urine, due to enzymatic block. The clinical features associated with alpha-amino adipic aciduria may include mental retardation, developmental and motor delay, learning difficulties, convulsions, speech problems and ataxia. 3 siblings had milder symptoms of psychomotor delay and intermediate degrees of alpha amino-adipic aciduria, suggesting that the described developmental deficits could be related to this metabolite or its derivatives.
authors.affiliation: Pathological Chemistry Institute, Sheba Medical Center, Tel Hashomer.
authors.forename: B A
authors.initials: BA
authors.lastname: Sela
authors.forename: T
authors.initials: T
authors.lastname: Massos
authors.forename: D
authors.initials: D
authors.lastname: Fogel
authors.forename: J
authors.initials: J
authors.lastname: Zlotnik
mesh_terms: D015074:2-Aminoadipic Acid / Q000097:blood / Q000652:urine*; D002675:Child, Preschool; D002658:Developmental Disabilities; D006801:Humans; D008607:Intellectual Disability; D007859:Learning Disabilities; D008297:Male; D013064:Speech Disorders; D013577:Syndrome
chemical_list: D015074:2-Aminoadipic Acid