Journal of Inherited Metabolic Disease

, Volume 32, Issue 5, pp 597–608 | Cite as

Mental retardation and inborn errors of metabolism

  • A. García-Cazorla
  • N. I. Wolf
  • M. Serrano
  • U. Moog
  • B. Pérez-Dueñas
  • P. Póo
  • M. Pineda
  • J. Campistol
  • G. F. Hoffmann


In countries where clinical phenylketonuria is detected by newborn screening inborn errors of metabolism are rare causes of isolated mental retardation. There is no international agreement about what type of metabolic tests must be applied in patients with unspecific mental retardation. However, and although infrequent, there are a number of inborn errors of metabolism that can present in this way. Because of the high recurrence risk and the possibility of specific therapies, guidelines need to be developed and adapted to different populations. The application of a universal protocol may result in a low diagnostic performance in individual ethnic populations. Consideration of associated signs (extraneurological manifestations, psychiatric signs, autistic traits, cerebellar dysfunction, epilepsy or dysmorphic traits) greatly improves the diagnostic fulfilment.


Mental Retardation Intelligence Quotient Urea Cycle Disorder Cerebrotendinous Xanthomatosis Attention Deficiency Hyperactive Disorder 



American Association on Mental Retardation


congenital disorders of glycosylation


central nervous system


cerebrospinal fluid






isoelectric focusing


inborn error of metabolism




mental retardation


non-ketotic hyperglycinaemia




ribososyl succinyladenosine


succinylaminoimidazole carboximide


succinic semialdehyde dehydrogenase


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Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • A. García-Cazorla
    • 1
    • 5
  • N. I. Wolf
    • 1
    • 2
  • M. Serrano
    • 1
  • U. Moog
    • 1
    • 3
  • B. Pérez-Dueñas
    • 1
  • P. Póo
    • 1
  • M. Pineda
    • 1
  • J. Campistol
    • 1
  • G. F. Hoffmann
    • 1
    • 4
  1. 1.Neurology and Metabolism DepartmentHospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos IIIBarcelonaSpain
  2. 2.Department of Child NeurologyVU Medical CenterAmsterdamThe Netherlands
  3. 3.Institute of Human GeneticsUniversity Hospital HeidelbergHeidelbergGermany
  4. 4.University Children’s Hospital HeidelbergHeidelbergGermany
  5. 5.Neurology DepartmentHospital Sant Joan de DéuEsplugues, BarcelonaSpain

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