Autism and metabolic disorders - A rational approach;Autismus und stoffwechselerkrankungen - Was ist gesichert?

Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie

Volumn 33, Issue 4, 2005, Pages 259-271

  Hahn, Andreas ^a   Neubauer, Bernd A ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

Author keywords

Autism; Diagnostics; Inborn errors of metabolism; Therapy

Indexed keywords

ADENYLOSUCCINATE LYASE; DIHYDROPYRIMIDINE DEHYDROGENASE; GUANIDINOACETATE METHYLTRANSFERASE; RIBOSEPHOSPHATE PYROPHOSPHOKINASE; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; TETRAHYDROBIOPTERIN; UNCLASSIFIED DRUG;

ADENYLSUCCINATE LYASE DEFICIENCY; AUTISM; DIAGNOSTIC PROCEDURE; DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY; DISEASE ASSOCIATION; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HISTIDINEMIA; HUMAN; INBORN ERROR OF METABOLISM; METABOLIC DISORDER; NEUROLOGIC DISEASE; NUCLEOTIDE DEPLETION SYNDROME; PHENYLKETONURIA; PYRIDOXINE DEFICIENCY; RARE DISEASE; REVIEW; SMITH LEMLI OPITZ SYNDROME; SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SYMPTOMATOLOGY; TETRAHYDROBIOPTERIN DEFICIENCY;

ADOLESCENT; AUTISTIC DISORDER; BRAIN DISEASES, METABOLIC, INBORN; CHILD; COMORBIDITY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; NEUROLOGIC EXAMINATION; PHENOTYPE; RISK FACTORS; SMITH-LEMLI-OPITZ SYNDROME; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE;

EID: 27544481719     PISSN: 14224917     EISSN: None     Source Type: Journal    
DOI: 10.1024/1422-4917.33.4.259     Document Type: Review

References (79)

1. American Academy of Pediatrics, Committee on children with disabilities. (2001) Technical report: the pediatrician's role in the diagnosis and management of autistic spectrum disorder in children. Pediatrics, 107, 1221-1226. URL: http//www.pediatrics.org/cgi/content/full/107/5/e85.
2. Baieli S., Pavone, L. Meli, C., Fiumara, A. & Coleman, M. (2003). Autism and phenlykentonuria. Journal of Autism and Developmental Disorders, 33, 201-204.
3. Baird, G., Cass, H. & Slonims, V. (2003). Diagnosis of autism. British Medical Journal, 327, 488-493.
4. Baynes, K., Farias S. T. & Giospe S. M. (2003). Pyridoxine-dependent seizures and cognition in adulthood. Developmental Medicine and Child Neurology, 45, 782-785.
5. Becker, M. A., Puig, J. G., Mateos, F. A., Jiminez, M. L., Kim, M. & Simmonds, H. A. (1988). Inherited superactivily of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness. American Journal of Medicine, 85, 383-390.
6. Berger, R., Stoker-De Vries, S. A., Wadman, S. K., Duran, M., Beemer, F. A., de Bree, P. K., Weits-Binnerts, J. J., Penders, T. J. & van der Woude, J. K. (1984). Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. Clinica Chimica Acta, 141, 227-234.
7. Bolman, W. M. & Richmond, J. A. (1999). A double-blind, placebo-controlled, cross-over pilot trial of low dose dimethyglycine in patients with autistic disorder. Journal of Autism and Developmental Disorders, 29, 191-194.
8. Burd, L., Stenehejm, A., Fraceshini, L. A. & Kerbeshian, J. (2000). A 15 year follow up of a boy with pyridoxine-dependent seizures with autism, breath holding and severe mental retardation. Journal of Child Neurology, 15, 763-765.
9. Chakrabati, S. & Fombonne, E. (2001). Pervasive developmental disorders in preschool children. Journal of the American Medical Association, 285, 3141-3142.
10. Chez, M., Buchanan, C., Bagan, B., Hammer, M. S., McCarthy, K. S., Ovrutskaya, F., Nowinski, C. V. & Cohen, Z. S. (2000). Secretin and autism: a two-part clinical investigation. Journal of Autism and Developmental Disorders, 30, 87-95.
11. Coleman, M., Landgrebe, M. & Landgrebe, A. (1974). Progressive seizures with hyperuricusuria reversed by allopurinol. Archives of Neurology, 31, 238-242.
12. Coleman, N. (1989). Autism: nondrug biological treatments. In: C. Gillberg (Ed.), Diagnosis and treatment of autism (pp 219-235). New York: Plenum Press.
13. DelGuidice-Asch, G., Simon, L., Schmeidler, J., Cunningham-Rundles, C. & Hollander. E. (1999). Brief report: a pilot open clinical trial of intravenous immunglobulin in childhood autism. Journal of Autism and Developmental Disorders, 29, 157-160.
14. Dennis, M., Lockeyer, L., Lazenby, A. L., Donelly, R. E., Wilkinson, M. & Schoonheyt, W. (1999). Intelligence patterns among children with high-functioning autism, phenylketonuria, and childhood head injury. Journal of Autism and Developmental Disorders, 29, 5-17.
15. D'Eutemia, P., Celli, M. & Finocchiaro, R. (1996). Abnormal intestinal permeability in children with autism. Acta Pediatrica, 85, 1076-1079.
16. Deutsche Gesellschaft für Kinder- und Jugendpsychiatrie und Psychotherapie (2003). Leitlinien zur Diagnostik und Therapie von psychischen Störungen im Säuglings-, Kindes- und Jugendalter. Zweite überarbeitete Auflage. Köln: Deutscher Ärzte Verlag.
17. Dolske, M. C., Spollen, J., McKay, S., Lancashire, E. & Tolbert, L. A. (1993). A preliminary trial of ascorbic acid as supplemental therapy for autism. Progress in Neuro-Psychopharmacology & Biological Psychiatry, 7, 765-774.
18. Dunn-Geier, J., Ho, H. H., Auersperg, E., Doyle, D., Eaves, L., Matsuba, C., Orbine, E., Pham, B. & Whiting, S. (2000). Effect of secretin on children with autism. A randomised controlled trial. Developmental Medicine and Child Neurology, 42, 796-802.
19. Findling, R. L., Maxwell, K., Scotese-Wojtila, C., Hunag, J., Yamashita, T. & Wiznitzer, M. (1995). High dose pyridoxine and magnesium administration in children with autistic disorder: an absence of salutary effects in a double-blind, placebo-controlled study. Journal of Autism and Developmental Disorders, 25, 61-70.
20. Fombonne, E. (1999). The epidemiology of autism: a review. Psychological Medicine, 29, 769-786.
21. Gibson, K. M., Christensen, E., Jakobs, C., Fowler, B., Clarke, M. A., Hammersen, G., Raab, K., Kobori, J., Moosa, A., Vollmer, B., Rossier, E., Iafolla, A. K., Matern, D., Brouwer, O. R., Finkelstein, J., Aksu, F., Weber, H. D., Bakkeren, J. A., Gabreels, F. J., Bluestone, D., Barron, T. F., Beauvais, P., Rab, D., Santos, C. & Lehnert, W. (1997). The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxy-butyric aciduria): case reports of 23 new patients. Pediatrics, 99, 567-574.
22. Gibson, K. M., Hoffman G. F., Hodson, A. K., Bottiglieri, T. & Jakobs, C. (1998). 4-hydroxy-butyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics, 29, 14-22.
23. Gibson, K. M., Gupta, M., Pearl, P. L., Tuchman, M., Vezina, L. G., Snead, O. C., Smit, L. M. & Jakobs, C. (2003). Significant behavioural disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria. Biological Psychiatry, 54, 763-768.
24. nd edition; pp 827-842). London: MacKeith.
25. Gillberg, C. & Coleman, M. (1992). The biology of the autistic syndromes. Clinics of Developmental Medicine Nr. 126, London: MacKeith.
26. Gropman, A. (2003). Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency. Annals of Neurology, 54 Supplement, 66-72.
27. Gupta, S., Aggarwal, S. & Heads, C. (1996). Dysregulated immune system in children with autism: beneficial effects of intravenous immune globulins on autistic characteristics. Journal of Autism and Developmental Disorders, 26, 439-452.
28. Hackney I. M., Hanley, W. B., Davidson, W. & Lindsao, L. (1968). Phenylketonuria: mental development, behavior, and termination of low phenylalanine diet. Journal of Pediatrics, 72, 646-655.
29. Hoffman, G. F. & Haas, D. (2000): Disorders of cholesterol synthesis. In: J. Fernandes, J.-M. Saudubray & G. van den Berghe (Eds.), Inborn metabolic diseases (third edition; pp 337-342). Berlin Heidelberg New York: Springer-Verlag.
30. Horvath, K., Stefanatos, G., Sokolski, K. N., Wachtel, R., Nabors, R. L. & Tildon, J. T. (1998). Improved social and language skills alter secretin administration in patients with autistic spectrum disorders. Journal of the Association for Academic Minority Physicians, 9, 9-15.
31. Horvath, K., Papadimitriou, J. C., Rabsztyn, A., Drachenberg, C. & Tildon, J. T. (1999). Gastrointestinal abnormalities in children with autistic disorder. Journal of Pediatrics, 135, 559-563.
32. Irons, M., Elias E. R. & Abuelo D. (1993). Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet, 341, 1414.
33. Jaeken, J. & van den Berghe, G. (1988). An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet, 335, 1058-1061.
34. Jacken, J., Wadman, S. K., Duran, M., van Sprang, F. J., Beemer, F. A., Holl, R. A., Theunissen, P. M., de Cock, P., van den Bergh, F. & Vincent, M. F. (1988). Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. European Journal of Pediatrics, 148, 126-131.
35. Jaeken, J., Jacobs, C. & Wevers, R. (2000). Disorders of neurotransmission. In: J. Fernandes, J.-M. Saudubray & G. van den Berghe (Eds.), Inborn metabolic diseases (third edition; pp 300-311). Berlin Heidelberg New York: Springer-Verlag.
36. Jira, P., Wevers, R., de Jong, J., Rubio-Gozalbo, E. & Smeitink, J. (1997). New treatment strategy for Smith-Lemli-Opitz syndrome. Lancet, 349, 1222.
37. Jira, P. E., Wevers, R. A., de Jong, J., Rubio-Gozalbo, E., Janssen-Zijlstra, F. S., van Heyst, A. F., Sengers, R. C. & Smeitink, J. A. (2000). Simvastatin. A new approach for Smith-Lemli-Opitz syndrome. Journal of Lipid Research, 41, 1339-1346.
38. Kelly, R. I. & Hennekam, R. C. H. (2001). Smith-Lemli-Opitz syndrome. In: C. R. Scriver, A. L. Beaudet, W. S. Sly & D. Valle (Eds.), The metabolic and molecular basis of inherited disease (8th edition; pp 6183-6201). New York: McGraw Hill.
39. Kleijnen, J. & Knipschild, P. (1991). Niacin and vitamin B6 in mental functioning: a review of controlled trials. Biological Psychiatry, 29, 931-941.
40. Knivsberg, A., Wiig, K., Lind, G., Nogland, M. & Reichelt, K. L. (1990). Dietary intervention in autistic syndromes. Developmental Brain Dysfunction, 3, 315-327.
41. Leuzzi, V. (2002). Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment. Journal of Child Neurology, 17 Supplement 3, 89-97.
42. Levy, S. E., Souders, M. C., Wray, J., Jawad, A. F., Gallagher P. R., Coplan, J., Belchic, J. K., Gerdes, M., Mitchell, R. & Mulberg, A. E. (2003). Children with autistic spectrum disorders. I: Comparison of placebo and single dose of human synthetic secretin. Archives of Disease in Childhood, 88, 731-736.
43. Lingam, R., Simmons, A., Andrews, N., Miller, E., Stowe, J. & Taylor, B. (2003). Prevalence of autism and parentally reported triggers in a north east London population. Archives of Disease in Childhood, 88, 666-670.
44. Madsen, K. M., Hvid, A., Vestergaard, M., Schendel, D., Wohlfahrt, J., Thorsen, P., Osen, J. & Melbye, M. (2002). A population-based study of measles, mumps, and rubella vaccination and autism. The New England Journal of Medicine, 347, 1477-1482.
45. Mercimek-Mahmutoglu, S. & Stockler-Ipsiroglu, S. (2004). Clinical and biochemical characteristics of creatine deficiency syndromes. In: E. Klepper (Ed.), Brain metabolism revisited - concepts and treatments (pp 58-68). Heilbronn: SPS-Verlagsgesellschaft.
46. Nowell, M. A., Hackney, D. B., Muraki, A. S. & Coleman, M. (1990). Varied MR appearance of autism: fifty-three pediatric patients having the full autistic syndrome. Magnetic Resonance Imaging, 8, 811-816.
47. Ornitz, E., Guthrie, D. & Parley, A. J. (1977). The early development of autistic children. Journal of Autism and Childhood Schizzophrenia, 7, 207-229.
48. Page, T. (2000). Metabolic approaches to the treatment of autism spectrum disorders. Journal of Autism and Developmental Disorders, 30, 463-469.
49. Page, T., Yu, A., Fontanesi, J. & Nyhan, W. L. (1997). Developmental disorder associated with increased cellular nucleotidase activity. Proceedings of the National Academy of Sciences of the USA, 94, 1601-1606.
50. Pearl, P. L., Nowotny, E. J., Acosta, M. T., Jacobs, C. & Gibson, K. M. (2003). Succinic semialdehyde dehydrogenase deficiency in children and adults. Annals of Neurology, 54 Supplement 6, 73-80.
51. Plioplys, A. V. (1998). Intravenous immunoglobulin treatment of children with autism. Journal of Child Neurology, 13, 79-82.
52. Race, V., Marie, S., Vincent, M.-F. & van den Berghe, G. (2000). Clinical, biochemical, and molecular genetic correlations in adenylosuccinate lyase deficiency. Human Molecular Genetics, 9, 2159-2165.
53. Reichelt, K. L., Knivsberg, A., Lind, G. & Nodland, M. (1991). Probable etiology and possible treatment of childhood autism. Brain Dysfunction, 4, 323-334.
54. Reichelt, K. L., Knivsberg, A., Nodland, M. & Lind, G. (1994). Nature and consequences of hyperpeptiduria and bovine casomorphins found in autistic syndromes. Developmental Brain Dysfunction, 7, 71-85.
55. Renzoni E, Beltrami V, Sestini P, Pompella A, Menchetti G. & Zapella M. (1995). Brief report: allergological evaluation of children with autism. Journal of Autism and Developmental Disorders, 25, 327-333.
56. Salerno, C., D'Euphemia, P., Finocchiaro, R., Celli, M., Spalice, A., Ianetti, P., Crifo, C. & Giardini, O. (1999). Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylsuccinase deficiency. Biochimica et Biophysica Acta, 1453, 135-140.
57. Salerno, C., Crifo, C. Curatolo, P. & Ciardo, F. (2000). Effect of uridine administration to a patient with adenylosuccinate lyase deficiency. Advances in Experimental Medicine and Biology, 486, 75-78.
58. Sandler, A. D., Sutton, K. A., DeWeese, L., Girardi, M. A., Sheppard, V. & Bodfish, J. W. (1999). Lack of benefit of a single dose of synthetic human secretin in the treatment of autism and pervasive developmental disorder. New England Journal of Medicine, 341, 1801-1806.
59. Sivendran S., Patterson, D., Spiegel, E., McGown, I., Cowley, D. & Colman, R. F. (2004). Two novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant bacillus subtilis ASL. The Journal of Biological Chemistry, 51, 53789-53797.
60. Shaw, W., Kassen, E. & Chavez, E. (1995). Increased urinary excretions of analogs of Krebs cycle metabolites and arabinose in two brothers with autistic features. Clinical Chemistry, 41, 1094-1104.
61. Smeeth, L., Hall, A. J., Rodrigues, L. C., Huang, X. Smith, P. G. & Fombonne, E. (2003). Measles, mumps, and rubella (MMR) vaccine and autism: ecological studies cannot answer main question. British Medical Journal, 323, 163.
62. Smith, I. & Lee, P. (2000). The hyperphenylalaninaemias. In: J. Fernandes, J.-M. Saudubray, G. & van den Berghe (Eds.), Inborn metabolic diseases (third edition; pp 170-184). Berlin Heidelberg New York: Springer-Verlag.
63. Sponheim, E., Oftedal, G. & Helverschou, S. B. (2002). Multiple doses of secretin in the treatment of autism: a controlled study. Acta Pediatrica, 91, 540-545.
64. Starck, L., Lövgren-Sandblom, A. & Björkhem, I. (2002). Simvastatin treatment in the SLO syndrome: a safe approach? American Journal of Medical Genetics, 113, 183-189.
65. Stöckler, S., Holzbach, U., Hanefeld, F., Marquardt, I., Helms, G., Requart, M., Hanicke, W. & Frahm, J. (1994). Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatric Research, 36, 409-413.
66. Stromberger, C., Bodamer, O. A. & Stockler-Ipsiroglu, S. (2003). Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. Journal of Inherited Metabolic Disorders, 26, 299-308.
67. Sturmey, P. (2005). Secretin is an ineffective treatment for pervasive developmental disabilities: a review of 15 double-blind randomised controlled trials. Research in Developmental Disabilities, 26, 87-97.
68. Szatmari, P. (2003). The causes of autism spectrum disorders. British Medical Journal, 326, 173-174.
69. Taylor, B., Miller, E., Farrington, C. P., Petropoulos, M. C., Favot-Mayaud, J. & Waight, P. A. (1999). Autism and measles, mumps, and rubella vaccine: no epidemiological evidence for a causal association. Lancet, 353, 2026-2029.
70. Tierney, E., Nwokoro, N. A. & Kelley, R. I. (2000). Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome. MRDD Research Reviews, 6, 131-134.
71. Tierney, E., Nwokoro, N. A., Porter, F. D., Freund, L. S., Ghuman, J. K. & Kelley, R. I. (2001). Behavioral phenotype in the RSH/Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics, 98, 191-200.
72. Ulvi, H., Müngen, B., Yakinci, C. & Yoldas, T. (2002). Pyridoxine-dependent seizures: long-term follow-up of two cases with clinical and MRI findings, and pyridoxine treatment. Journal of Tropical Pediatrics, 48, 303-306.
73. Van den Berghe, G., Vincent, M. F. & Jaeken, J. (1997). Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency. Journal of inherited Metabolic Diseases, 20, 193-202.
74. Van den Berghe, G., Vincent, M.-F. & Marie, S. (2000). Disorders of purine and pyrimidine metabolism. In: J. Fernandes, J.-M. Saudubray, G. & van den Berghe (Eds.), Inborn metabolic diseases (third edition; pp 353-368). Berlin Heidelberg New York: Springer-Verlag.
75. Van der Knaap, M. S., Verhoeven, N. M., Maaswinkel-Mooij, P., Pouwels, P. J., Onkenhout, W., Peeters, E. A., Stockler-Ipsiroglu, S. & Jakobs, C. (2000). Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect. Annals of Neurology, 47, 540-543.
76. Van Gennip, A. H., Abeling, N. G. G. M., Vreken, P. & van Kuilenburg, A. B. (1997). Inborn errors of pyrimidine degradation: clinical, biochemical and molecular aspects. Journal of Inherited Metabolic Disorders, 20, 203-213.
77. Van Gennip, A. H. & van Kuilenburg, A. B. (2000). Defects of pyrimidine degradation: clinical, molecular and diagnostic aspects. Advances in Experimental Medicine and Biology, 486, 233-241.
78. Volkmar, F. R. & Pauls, D. (2003). Autism. Lancet, 362, 1133-1141.
79. Wakefield, A. J., Murch, S., Anthony, A., Linnell, J., Casson, D. M., Malik, M., Berelowitz, M., Dhillon, A. P., Thomson, M. A., Harvey, P., Valentie, A., Davies, S. E. & Walker-Smith, J. A. (1998). Ileal-lymphoid-nodular hyperplasia, non-specific colitis, and pervasive developmental disorder in children. Lancet, 351, 637-641.