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Mental retardation and inborn errors of metabolism
Author(s) -
GarcíaCazorla A.,
Wolf N. I.,
Serrano M.,
Moog U.,
PérezDueñas B.,
Póo P.,
Pineda M.,
Campistol J.,
Hoffmann G. F.
Publication year - 2009
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-009-0922-5
Subject(s) - inborn error of metabolism , human genetics , medicine , intellectual disability , pediatrics , epilepsy , developmental disorder , newborn screening , psychiatry , growth retardation , autism , genetics , biology , endocrinology , pregnancy , gene
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.