Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.
Mental retardation (MR) is a common disorder frequently of unknown origin. Because there are few studies regarding MR and inborn errors of metabolism (IEM), we aimed to identify patients with IEM from a cohort of 944 patients with unexplained MR. Biochemical examinations such as determination of creatine (Cr) metabolites, acylcarnitines, purine, and pyrimidines in urine were applied. We found seven patients with IEM [three with cerebral Cr deficiency syndromes (CCDS)], one with adenylosuccinate lyase (ADSL) deficiency, and three, born before the neonatal metabolic screening program in Catalonia, with phenylketonuria (PKU). All told, they represent 0.8% of the whole cohort. All of them had additional symptoms such as epilepsy, movement disorders, autism, and other psychiatric disturbances. In conclusion, in patients with MR, it is essential to perform a thorough appraisal of the associated signs and symptoms, and in most disorders, it is necessary to apply specific analyses. In some cases, it is important to achieve an early diagnosis and therapy, which may reduce the morbimortality, and to offer genetic counselling.
Sempere
Angela
A
Hospital Sant Joan de Déu, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Esplugues, Spain.
Arias
Angela
A
Farré
Guillermo
G
García-Villoria
Judith
J
Rodríguez-Pombo
Pilar
P
Desviat
Lurdes R
LR
Merinero
Begoña
B
García-Cazorla
Angels
A
Vilaseca
Maria A
MA
Ribes
Antonia
A
Artuch
Rafael
R
Campistol
Jaume
J
D000264:Adenylosuccinate Lyase / Q000172:deficiency / Q000652:urine; D000293:Adolescent; D000328:Adult; D000368:Aged; D002331:Carnitine / Q000031:analogs & derivatives / Q000652:urine; D002648:Child; D002675:Child, Preschool; D002857:Chromium / Q000652:urine; D015331:Cohort Studies; D003401:Creatine / Q000652:urine; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000652:urine*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000652:urine*; D008875:Middle Aged; D010661:Phenylketonurias / Q000097:blood; D011687:Purines / Q000652:urine; D011743:Pyrimidines / Q000652:urine
D011687:Purines; D011743:Pyrimidines; C116917:acylcarnitine; D002857:Chromium; D000264:Adenylosuccinate Lyase; D003401:Creatine; D002331:Carnitine