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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
REVIEW

Summary

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.

Keywords

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

Abbreviations

AAMR

American Association on Mental Retardation

CDG

congenital disorders of glycosylation

CNS

central nervous system

CSF

cerebrospinal fluid

EEG

electroencephalogram

GAG

glycosaminoglycan

IEF

isoelectric focusing

IEM

inborn error of metabolism

MPS

mucopolysaccharidosis

MR

mental retardation

NKH

non-ketotic hyperglycinaemia

PKU

phenylketonuria

S-Ado

ribososyl succinyladenosine

SAICAR

succinylaminoimidazole carboximide

SSADH

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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