publication . Article . Other literature type . 2009

Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients

Serrano Mercedes L.; Martins Cecilia E.; Pérez-Dueñas Belén; Gómez-López Lilian; Murgui Empar; Fons Carmen; García-Cazorla Ángels; Artuch Rafael M D; Jara Fernando; Arranz José Antonio; ...
Closed Access English
  • Published: 14 Aug 2009
  • Publisher: Sage Publications
  • Country: Switzerland
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...
Subjects
free text keywords: Medical Clinic, 610 Medicine & health, Pediatrics, Perinatology, and Child Health, Clinical Neurology, Delirium, medicine.symptom, medicine, Internal medicine, medicine.medical_specialty, Diabetes mellitus, medicine.disease, Anesthesia, Late onset, Attention deficit hyperactivity disorder, Endocrinology, Autism, Language disorder, Urea cycle, Pediatrics, business.industry, business, Urea cycle disorder
Funded by
SNSF| Urea cycle disorders: the molecular basis and pathology of phenotypic variability
Project
  • Funder: Swiss National Science Foundation (SNSF)
  • Project Code: 310030_127184
  • Funding stream: Project funding | Project funding (Div. I-III)
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publication . Article . Other literature type . 2009

Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients

Serrano Mercedes L.; Martins Cecilia E.; Pérez-Dueñas Belén; Gómez-López Lilian; Murgui Empar; Fons Carmen; García-Cazorla Ángels; Artuch Rafael M D; Jara Fernando; Arranz José Antonio; ...