Retraso Mantal Inexplicable

J Inherit Metab Dis. 2010 Feb;33(1):1-7. Epub 2010 Jan 5.
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.Sempere A, Arias A, Farré G, García-Villoria J, Rodríguez-Pombo P, Desviat LR, Merinero B, García-Cazorla A, Vilaseca MA, Ribes A, Artuch R, Campistol J.
HospitalSant Joan de Déu, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Esplugues, Spain.
Abstract
Mental retardation (MR) is a common disorderfrequently of unknown origin. Because there are few studies regarding MR and inborn errors of metabolism (IEM), we aimed to identify patients with IEM from acohort of 944 patients with unexplained MR. Biochemical examinations such as determination of creatine (Cr) metabolites, acylcarnitines, purine, and pyrimidines inurine were applied. We found seven patients with IEM [three with cerebral Cr deficiency syndromes (CCDS)], one with adenylosuccinate lyase (ADSL) deficiency, andthree, born before the neonatal metabolic screening program in Catalonia, with phenylketonuria (PKU). All told, they represent 0.8% of the whole cohort. All of themhad additional symptoms such as epilepsy, movement disorders, autism, and other psychiatric disturbances. In conclusion, in patients with MR, it is essential toperform a thorough appraisal of the associated signs and symptoms, and in most disorders, it is necessary to apply specific analyses. In some cases, it isimportant to achieve an early diagnosis and therapy, which may reduce the morbimortality, and to offer genetic counselling.
PMID: 20049533 [PubMed - indexed for MEDLINE]