Study of inborn errors of metabolism in urine from patients with unexplained mental retardation

J Inherit Metab Dis. 2010 Feb;33(1):1-7. doi: 10.1007/s10545-009-9004-y. Epub 2010 Jan 5.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenylosuccinate Lyase / deficiency
  • Adenylosuccinate Lyase / urine
  • Adolescent
  • Adult
  • Aged
  • Carnitine / analogs & derivatives
  • Carnitine / urine
  • Child
  • Child, Preschool
  • Chromium / urine
  • Cohort Studies
  • Creatine / urine
  • Female
  • Humans
  • Intellectual Disability / urine*
  • Male
  • Metabolism, Inborn Errors / urine*
  • Middle Aged
  • Phenylketonurias / blood
  • Purines / urine
  • Pyrimidines / urine


  • Purines
  • Pyrimidines
  • acylcarnitine
  • Chromium
  • Adenylosuccinate Lyase
  • Creatine
  • Carnitine