title: Neuropsychiatric manifestations in late-onset urea cycle disorder patients.
abstract: Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late-onset urea cycle disorders caused by partial enzyme deficiencies may present with unexpected clinical phenotypes. We report 9 patients followed up in our hospital presenting late-onset urea cycle disorders who initially manifested neuropsychiatric/neurodevelopmental symptoms (the most prevalent neuropsychiatric/neurodevelopmental diagnoses were mental retardation, attention-deficit hyperactivity disorder [ADHD], language disorder, and delirium). Generally, these clinical pictures did not benefit from pharmacological treatment. Conversely, dietary treatment improved the symptoms. Regarding biochemical data, 2 patients showed normal ammonium but high glutamine levels. This study highlights the fact that neuropsychiatric/neurodevelopmental findings are common among the initial symptomatology of late-onset urea cycle disorders. The authors recommend that unexplained or nonresponsive neuropsychiatric/neurodevelopmental symptoms appearing during childhood or adolescence be followed by a study of ammonia and amino acid plasmatic levels to rule out a urea cycle disorder.
authors.affiliation: Neurometabolic Unit, Hospital Sant Joan de Déu, Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
authors.forename: Mercedes
authors.initials: M
authors.lastname: Serrano
authors.forename: Cecilia
authors.initials: C
authors.lastname: Martins
authors.forename: Belén
authors.initials: B
authors.lastname: Pérez-Dueñas
authors.forename: Lilian
authors.initials: L
authors.lastname: Gómez-López
authors.forename: Empar
authors.initials: E
authors.lastname: Murgui
authors.forename: Carmen
authors.initials: C
authors.lastname: Fons
authors.forename: Angels
authors.initials: A
authors.lastname: García-Cazorla
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
authors.forename: Fernando
authors.initials: F
authors.lastname: Jara
authors.forename: José A
authors.initials: JA
authors.lastname: Arranz
authors.forename: Johannes
authors.initials: J
authors.lastname: Häberle
authors.forename: Paz
authors.initials: P
authors.lastname: Briones
authors.forename: Jaume
authors.initials: J
authors.lastname: Campistol
authors.forename: Mercedes
authors.initials: M
authors.lastname: Pineda
authors.forename: Maria A
authors.initials: MA
authors.lastname: Vilaseca
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000150:complications / Q000378:metabolism / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D020159:Citrullinemia / Q000150:complications / Q000378:metabolism / Q000628:therapy; D005260:Female; D005500:Follow-Up Studies; D005973:Glutamine / Q000378:metabolism; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000150:complications* / Q000378:metabolism / Q000628:therapy; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications / Q000378:metabolism / Q000628:therapy; D000644:Quaternary Ammonium Compounds / Q000378:metabolism; D012189:Retrospective Studies; D016896:Treatment Outcome; D056806:Urea Cycle Disorders, Inborn / Q000150:complications* / Q000378:metabolism / Q000628:therapy
chemical_list: D000644:Quaternary Ammonium Compounds; D005973:Glutamine