Mental retardation and inborn errors of metabolism.
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.
García-Cazorla
A
A
Neurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain. agarcia@hsjdbcn.org.|Neurology Department, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu, 2, 08950, Esplugues, Barcelona, Spain. agarcia@hsjdbcn.org.
Wolf
N I
NI
Neurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.|Department of Child Neurology, VU Medical Center, Amsterdam, The Netherlands.
Serrano
M
M
Neurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
Moog
U
U
Neurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.|Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Pérez-Dueñas
B
B
Neurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
Póo
P
P
Neurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
Pineda
M
M
Neurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
Campistol
J
J
Neurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
Hoffmann
G F
GF
Neurology and Metabolism Department, Hospital Sant Joan de Déu, Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.|University Children's Hospital Heidelberg, Heidelberg, Germany.
D000465:Algorithms; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000209:etiology*; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000523:psychology; D015997:Neonatal Screening / Q000379:methods; D017410:Practice Guidelines as Topic
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