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Erschienen in:

01.10.2009 | REVIEW

Mental retardation and inborn errors of metabolism

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

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 5/2009

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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.

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Titel: Mental retardation and inborn errors of metabolism
verfasst von: A. García-Cazorla
N. I. Wolf
M. Serrano
U. Moog
B. Pérez-Dueñas
P. Póo
M. Pineda
J. Campistol
G. F. Hoffmann
Publikationsdatum: 01.10.2009
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 5/2009
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-009-0922-5

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