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: 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, Maria A Vilaseca
• Journal: Journal of child neurology (J Child Neurol) Vol. 25 Issue 3 Pg. 352-8 (Mar 2010) ISSN: 1708-8283 [Electronic] United States
• PMID: 19684305 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Quaternary Ammonium Compounds
• Glutamine

Topics

• Adolescent
• Adult
• Age of Onset
• Carbamoyl-Phosphate Synthase I Deficiency Disease (complications, metabolism, therapy)
• Child
• Child, Preschool
• Citrullinemia (complications, metabolism, therapy)
• Female
• Follow-Up Studies
• Glutamine (metabolism)
• Humans
• Male
• Mental Disorders (complications, metabolism, therapy)
• Ornithine Carbamoyltransferase Deficiency Disease (complications, metabolism, therapy)
• Quaternary Ammonium Compounds (metabolism)
• Retrospective Studies
• Treatment Outcome
• Urea Cycle Disorders, Inborn (complications, metabolism, therapy)