• Mercedes Serrano, Cecilia Martins, Belén Pérez-Dueñas, Lilian Gómez-López, Empar Murgui, Carmen Fons, Angels García-Cazorla, Rafael Artuch, Fernando Jara, José A Arranz, Johannes Häberle, Paz Briones, Jaume Campistol, Mercedes Pineda, and Maria A Vilaseca.
• Neurometabolic Unit, Hospital Sant Joan de Déu, Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
• J. Child Neurol. 2010 Mar 1; 25 (3): 352-8.

AbstractInherited 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.

28 keywords...

hide…