title: Mental retardation and inborn errors of metabolism.
abstract: 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.
authors.affiliation: 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.
authors.forename: A
authors.initials: A
authors.lastname: García-Cazorla
authors.affiliation: 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.
authors.forename: N I
authors.initials: NI
authors.lastname: Wolf
authors.affiliation: 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.
authors.forename: M
authors.initials: M
authors.lastname: Serrano
authors.affiliation: 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.
authors.forename: U
authors.initials: U
authors.lastname: Moog
authors.affiliation: 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.
authors.forename: B
authors.initials: B
authors.lastname: Pérez-Dueñas
authors.affiliation: 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.
authors.forename: P
authors.initials: P
authors.lastname: Póo
authors.affiliation: 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.
authors.forename: M
authors.initials: M
authors.lastname: Pineda
authors.affiliation: 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.
authors.forename: J
authors.initials: J
authors.lastname: Campistol
authors.affiliation: 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.
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
mesh_terms: 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
references.citation: Am J Med Genet. 1987 Apr;26(4):959-69
references.pmid: 3591841
references.citation: Eur J Paediatr Neurol. 2009 Sep;13(5):444-51
references.pmid: 18948042
references.citation: Behav Brain Res. 2008 Sep 1;192(1):88-105
references.pmid: 18329113
references.citation: CNS Spectr. 2008 Jul;13(7):598-605
references.pmid: 18622364
references.citation: Am J Hum Genet. 2001 Jun;68(6):1497-500
references.pmid: 11326334
references.citation: Genet Med. 2001 Nov-Dec;3(6):393-8
references.pmid: 11715002
references.citation: Clin Neurol Neurosurg. 2009 Jan;111(1):109-10
references.pmid: 18980795
references.citation: Proc Natl Acad Sci U S A. 2004 Nov 30;101(48):16849-54
references.pmid: 15548604
references.citation: Am J Hum Genet. 2004 Jan;74(1):168-75
references.pmid: 14661163
references.citation: Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):293-301
references.pmid: 17640047
references.citation: Am J Hum Genet. 1997 Sep;61(3):660-7
references.pmid: 9326332
references.citation: Eur J Paediatr Neurol. 1999;3(1):3-6
references.pmid: 10727185
references.citation: Ann Neurol. 2003;54 Suppl 6:S73-80
references.pmid: 12891657
references.citation: Eur J Hum Genet. 2009 Jan;17(1):133-6
references.pmid: 18830228
references.citation: Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):302-6
references.pmid: 17639595
references.citation: Eur J Pediatr. 1992 Dec;151(12):899-903
references.pmid: 1473543
references.citation: J Inherit Metab Dis. 1993;16(4):753-61
references.pmid: 8412018
references.citation: Am J Med Genet A. 2005 Feb 15;133A(1):85-9
references.pmid: 15637719
references.citation: Pediatr Neurol. 2008 May;38(5):363-6
references.pmid: 18410855
references.citation: Mol Genet Metab. 2004 Apr;81 Suppl 1:S58-62
references.pmid: 15050975
references.citation: Pediatr Dev Pathol. 1998 Jan-Feb;1(1):85-98
references.pmid: 10463276
references.citation: Mol Genet Metab. 2002 Dec;77(4):282-90
references.pmid: 12468273
references.citation: Am J Med Genet A. 2005 Aug 30;137(2):228-31
references.pmid: 16086396
references.citation: Nature. 2008 Oct 16;455(7215):912-8
references.pmid: 18923513
references.citation: Hum Mol Genet. 2004 Nov 15;13(22):2803-11
references.pmid: 15385440
references.citation: J Inherit Metab Dis. 2003;26(2-3):309-18
references.pmid: 12889669
references.citation: Am J Med Genet A. 2008 Sep 1;146A(17):2242-51
references.pmid: 18663743
references.citation: Pediatrics. 2006 Jun;117(6):2304-16
references.pmid: 16740881
references.citation: Arch Neurol. 2006 Jan;63(1):129-31
references.pmid: 16401745
references.citation: Ann Neurol. 2004 Jan;55(1):80-6
references.pmid: 14705115
references.citation: J Inherit Metab Dis. 2006 Feb;29(1):214-9
references.pmid: 16601897
references.citation: J Inherit Metab Dis. 2007 Oct;30(5):631-41
references.pmid: 17694356
references.citation: J Inherit Metab Dis. 2003;26(2-3):299-308
references.pmid: 12889668
references.citation: Semin Pediatr Neurol. 2008 Mar;15(1):2-9
references.pmid: 18342255
references.citation: Eur J Hum Genet. 2005 Jan;13(1):6-25
references.pmid: 15523501
references.citation: Neuropediatrics. 1998 Feb;29(1):51-3
references.pmid: 9553952
references.citation: Neurology. 2004 Nov 9;63(9):1744-6
references.pmid: 15534274
references.citation: Rev Neurol. 2006 Jan 7;42 Suppl 1:S99-S102
references.pmid: 16506141
references.citation: Salud Publica Mex. 2008;50 Suppl 2:s132-41
references.pmid: 18470340
references.citation: Ann Saudi Med. 2004 Sep-Oct;24(5):393-5
references.pmid: 15573858
references.citation: Pflugers Arch. 2006 Jan;451(4):511-7
references.pmid: 16052352
references.citation: J Inherit Metab Dis. 2008 Apr;31(2):240-52
references.pmid: 18392742
references.citation: Neuropediatrics. 2003 Feb;34(1):1-6
references.pmid: 12690561
references.citation: J Intellect Disabil Res. 2005 Nov;49(Pt 11):865-71
references.pmid: 16207285
references.citation: Rev Neurol. 2006 Oct 10;43 Suppl 1:S187-92
references.pmid: 17061190
references.citation: Best Pract Res Clin Endocrinol Metab. 2007 Jun;21(2):307-21
references.pmid: 17574010
references.citation: Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):31-41
references.pmid: 12561056
references.citation: Dev Med Child Neurol. 2007 Feb;49(2):152-4
references.pmid: 17254005
references.citation: Am J Hum Genet. 2004 Jul;75(1):97-105
references.pmid: 15154114
references.citation: Mol Genet Metab. 2005 Sep-Oct;86(1-2):61-9
references.pmid: 16157495
references.citation: J Clin Neurosci. 2007 Jul;14(7):668-72
references.pmid: 17451957