Mental retardation and inborn errors of metabolism

Journal of Inherited Metabolic Disease

Volumn 32, Issue 5, 2009, Pages 597-608

  Garcia Cazorla A ^a,b,e   Wolf, N I ^a,b,c   Serrano, M ^a,b   Moog, U ^a,d   Perez Duenas B ^a,b   Poo P ^a,b   Pineda, M ^a,b   Campistol, J ^a,b   Hoffmann, G F ^a,b,d  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^e HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYGLUTARIC ACID; 4 AMINOBUTYRIC ACID; ADENYLOSUCCINATE LYASE; CYSTATHIONINE BETA SYNTHASE; GLYCOSAMINOGLYCAN; HOMOSERINE; LIOTHYRONINE; MONOCARBOXYLATE TRANSPORTER 8; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; THYROXINE;

ALLAN HERNDON DUDLEY SYNDROME; BETA MANNOSIDOSIS; CEREBROTENDINOUS XANTHOMATOSIS; CONGENITAL DISORDER OF GLYCOSYLATION; DISEASE COURSE; ENZYME DEFICIENCY; HARTNUP DISEASE; HOMOCYSTINURIA; HUMAN; HYPERGLYCINEMIA; INBORN ERROR OF METABOLISM; INTELLIGENCE QUOTIENT; LIOTHYRONINE BLOOD LEVEL; MENTAL DEFICIENCY; NEUROTRANSMISSION; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL HORN SYNDROME; REVIEW; SANFILIPPO SYNDROME; THYROXINE BLOOD LEVEL; UREA CYCLE; X CHROMOSOME LINKED DISORDER; X LINKED MENTAL RETARDATION;

ALGORITHMS; HUMANS; INFANT, NEWBORN; MENTAL RETARDATION; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PRACTICE GUIDELINES AS TOPIC;

EID: 70350345870     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-0922-5     Document Type: Review

References (56)

1. Abbott MH, Folstein SE, Abbey H, Pyeritz RE (1987) Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: Prevalence, natural history, and relationship to neurologic impairment and vitamin B(6)-responsiveness. Am J Med Genet 26: 959-969
2. Anselm IA, Alkuraya FS, Salomons GS et al (2006) X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype. J Inherit Metab Dis 29: 1214-219
3. Barth PG, Hoffmann GF, Jaeken J et al (1993) L-2-Hydroxyglutaric acidemia: Clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inherit Metab Dis 16: 4753-761
4. Bedilu R, Nummy KA, Cooper A et al (2002) Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. Mol Genet Metab 77: 282-290
5. Bröer A, Cavanaugh JA, Rasko JEJ, Bröer S (2006) The molecular basis of neutral aminoacidurias. Pflugers Arch 451: 511-517
6. Cherian MP (2004) Beta-mannosidae deficiency in two mentally retarded girls with intractable seizures. Ann Saudi Med 24 (5): 393-395
7. Coman D, McGill J, MacDonald R et al (2007) Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype. J Clin Neurosci 14 (7): 668-672
8. de Vries BB, van den Ouweland AM, Mohkamsing S et al (1997) Screening and diagnosis for the fragile X syndrome among the mentally retarded:aN epidemiological and psychological survey. Collaborative Fragile X Study Group. Am J Hum Genet 61 (3): 660-667
9. Dinopoulos A, Matsubara Y, Kure S (2005) Atypical variants of nonketotic hyperglycinemia. Mol Genet Metab 86 (1-2): 61-69
10. Dumitrescu, AM, Liano XH, Best TB et al (2004) A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 74: 168-175
11. Gabrielli O, Coppqa GV, Bruni S,Villani GR, Pontarelli G, DiNatale P (2005) An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene. Am J Med Genet 133: 85-89
12. Garcia-Cazorla A, Pérez-Dueñas B, Pineda M, Artuch R, Vilaseca MA, Campistol J (2006) Orientation of mental retardation from neurometabolic diseases. Rev Neurol 43 (Suppl 1):S187-192
13. Gitiaux C, Ceballos-Picot I, Marie S et al (2009) Misleading behavioural phenotype with adenylosuccinate lyase deficiency. Eur J Hum Genet 17 (1): 133-136
14. Gordon N (2007) Sjöegren-Larsson syndrome. Dev Med Child Neurol 49: 152-154
15. Gropman AL, Batshaw ML (2004) Cognitive outcome in urea cycle disorders. Mol Genet Metab 81: S58-S62
16. Gutschalk A, Harting I, Cantz M, Springer C, Rohrschneider K, Meinck HM (2004) Adult alpha-mannosidosis: Clinical progression in the absence of demyelination. Neurology 63 (9): 1744-1746
17. Gyato K, Wray J, Huang ZJ, Yudkoff M, Batshaw ML (2004) Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. Ann Neurol 55: 80-86
18. Kaler SG (1998) Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol 1: 85-98
19. Kara S, Sherr EH, Barkovich AJ (2008) Dilated perivascular spaces: An informative radiologic finding in Sanfilippo syndrome type A. Pediatr Neurol 38 (5): 363-366
20. Katz G, Lazcano-Ponce E (2008) Intellectual disability: Definition, etiological factors, classification, diagnosis, treatment and prognosis. Salud Publica Mex 50 (Suppl 2): S132-S141 S132-S141
21. Knerr I, Gibson M, Jakobs, C, Pearl PL (2008) Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. CNS Spectr 13 (7): 598-605
22. Köhler M, Assmann B, Bräutigam C, Storm W, Marie S (1999) Adenylosuccinase deficiency: Possibly underdiagnosed encephalopathy with variable clinical features. Eur J Pediatr Neurol 3: 3-6
23. Krasnewich D, O'Brien K, Sparks S (2007) Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia). Am J Med Genet C Semin Med Genet 145C (3): 302-306
24. Labauge P, Renard D, Castelnovo G, Sabourdy F, de Champfleur N, Levade T (2008) Beta-mannosidosis: A new cause of spinocerebellar ataxia. Clin Neurol Neurosurg Nov 1 [Epub ahead of print]
25. Luckasson R, Coulter DL, Polloway EA (1992) Mental retardation: definition, classification and systems of supports. American Association on Mental Retardation, Washington, DC
26. Luckasson R, Borthwick-Duffy S, Buntinx WHE, Coulter DL, Craig EM, Reeve A, Schalock RL, Snell M, Spitalnik DM, Spreat S, Tasse MJ (2002) Mental retardation: Definition, classification, and systems of support. American Association on Mental Retardation, Washington, DC
27. Malm D, Pantel J, Linaker OM (2005) Psychiatric symptoms in alpha-mannosidosis. J Intellect Disabil Res 49 (Pt 11): 865-871
28. Miossec-Chauvet E, Mikaeloff Y, Heron D et al (2003) Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia. Neuropediatrics 34 (1): 1-6
29. Moeschler, JB (2008) Genetic evaluation of intellectual disabilities. Semin Pediatr Neurol 15: 2-9
30. Moeschler JB, Shevell M (2006) American Academy of Pediatrics Committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 117 (6): 2304-2316
31. Moog U (2005) The outcome of diagnostic studies on the etiology of mental retardation: Considerations on the classification of the causes. Am J Med Genet A 137 (2): 228-231
32. Moog U, van Mierlo I, van Schrojenstein Lantman-de Valk HM, Spaapen L, Maaskant MA, Curfs LM (2007) Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems? Am J Med Genet C Semin Med Genet 145C (3): 293-301
33. Moog U, de Die-Smulders C, Martens H, Schrander-Stumpel C, Spaapen L (2008) To test or not to test? Metabolic testing in adolescents and adults with intellectual disability. J Policy Pract Intellect Disabil 5 (3): 167-173
34. Mudd SH, Levy HL, Kraus JP (2001) Disorders of transsulfuration. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds); Childs B, Kinzler KW, Vogelstein B (assoc. eds). The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 2007-2056
35. Pearl PL, Novotny EJ, Acosta MT, Jakobs C, Gibson KM (2003) Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol 54 (Suppl 6): S73-80
36. Pérez-Dueñas B, García-Cazorla A, Pineda M et al (2008) Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations. Eur J Paediatr Neurol. Oct 21 [Epub ahead of print]
37. Poch-Olivé ML (2006) Evaluation and diagnosis of patients with developmental delay: Standardised protocols from the paediatric point of view. Rev Neurol 42 (Suppl 1): S99-S102
38. Ramocki MB, Zoghbi HY (2008) Failure of neuronal homeostasis results in common neuropasychiatric phenotypes. Nature 455: 912-918
39. Rosenberg EH, Almeida LS, Kleefstra T et al (2004) High prevalence of SLC6A8
40. Rzem R, Veiga-da-Cunha M, Noël G, et al (2004) A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. l -2-hydroxyglutarate dehydrogenase is mutated in l -2-hydroxyglutaric aciduria Proc Natl Acad Sci U S A 101 (48): 16849-16854
41. Salomons GS, van Dooren SJ, Verhoeven NM et al (2001) X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome. Am J Hum Genet 68: 1497-1500
42. Salomons GS, van Dooren SJ, Verhoeven NM, et al (2003) X-linked creatine transporter defect: An overview. J Inherit Metab Dis 26: 309-318
43. Schmidtke K, Endres W, Roscher A et al (1992) Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. A clinico-pathological case study. Eur J Pediatr 151 (12): 899-903
44. Schwartz CE, Stevenson RE (2007) The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. Best Pract Res Clin Endocrinol Metab 21 (2): 307-321
45. Sedel F, Friderici K, Nummy K et al (2006) Gilles de la Tourette syndrome with beta-mannosidase deficiency. Arch Neurol 63: 129-131
46. Sedel F, Baumann N, Turpin JC, Lyon-Caen O, Saudubray JM, Cohen D (2007) Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults. J Inherit Metab Dis 30 (5): 631-641
47. Shao L, Shaw CA, Lu XY et al (2008) Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases. Am J Med Genet A 146A (17): 2242-2251
48. Stephen G, Kalhler C, Fahey M (2003) Metabolic disorders and mental retardation. Am J Med Genet C Semin Med Genet 117C: 31-41
49. Stromberger C, Bodamer OA, Stöckler-Ipsiroglu S (2003) Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. J Inherit Metab Dis 26: 299-308
50. Topçu M, Jobard F, Halliez S et al (2004) L-Hydroxyglutaric aciduria: Identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet 13 (22): 2803-2811
51. Vaillend C, Poirier R, Larroche S (2008) Genes, plasticity and mental retardation. Behav Brain Res 192: 88-105
52. Van den Bergh FAJTM, Bosschart AN, Hageman G, Duran M, Poll-The BT (1998) Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death. Neuropediatrics 29: 51-53
53. Van Karnebeek CD, Jansweijer MC, Leenders AG, Offringa M, Hennekam RC (2005) Diagnostic investigations in individuals with mental retardation:a systematic literature review of their usefulness. Eur J Hum Genet 13: 6-25
54. Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA (2008) Sanfilippo syndrome: A mini-review. J Inherit Metab Dis. 2008 Apr 4 [Epub ahead of print]
55. Westphal V, Peterson S, Patterson M et al (2001) Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia. Genet Med 3 (6): 393-398
56. Zschocke J, Hoffmann GF (2004) Vademecum metabolicum. Manual of Metabolic Paediatrics, 2nd edn. Schattauer, Stuttgart