Neuropsychiatric manifestations in late-onset urea cycle disorder patients

J Child Neurol. 2010 Mar;25(3):352-8. doi: 10.1177/0883073809340696. Epub 2009 Aug 14.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

  • Quaternary Ammonium Compounds
  • Glutamine