Neuropsychiatric manifestations in late-onset urea cycle disorder patients.
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.
Serrano
Mercedes
M
Neurometabolic Unit, Hospital Sant Joan de Déu, Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
Martins
Cecilia
C
Pérez-Dueñas
Belén
B
Gómez-López
Lilian
L
Murgui
Empar
E
Fons
Carmen
C
García-Cazorla
Angels
A
Artuch
Rafael
R
Jara
Fernando
F
Arranz
José A
JA
Häberle
Johannes
J
Briones
Paz
P
Campistol
Jaume
J
Pineda
Mercedes
M
Vilaseca
Maria A
MA
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
D000644:Quaternary Ammonium Compounds; D005973:Glutamine