Autism and lactic acidosis

  • Mary Coleman
  • John P. Blass

Abstract

Four patients are described who have two coexistent syndromes: the behavioral syndrome of autism and the biochemical syndrome of lactic acidosis. One of the four patients also had hyperuricemia and hyperuricosuria. These patients raise the possibility that one subgroup of the autism syndrome may be associated with inborn errors of carbohydrate metabolism.

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References

  1. Becker, M. A., Paivio, K. O., Bakay, B., Adams, W. B., & Nyhan, W. L. (1980). Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions.Journal of Clinical Investigation, 65, 109–120.PubMedGoogle Scholar
  2. Blass, J. P. (1979). Disorders of pyruvate metabolism.Neurology, 29, 280–286.PubMedGoogle Scholar
  3. Boullin, D. J., Coleman, M., & O'Brien, R. A. (1970). Abnormalities in platelet 5-hydroxytryptamine efflux in patients with infantile autism.Nature, 226, 371–372.PubMedGoogle Scholar
  4. Brown, W. T., Jenkins, E. C., Friedman, E., Brooks, J., Wisniewski, K., Raguthu, S., & French, J. (1982). Autism is associated with the fragile-X syndrome.Journal of Autism and Development Disorders, 12, 303–308.Google Scholar
  5. Chess, S., Korn, S. J., & Fernandez, P. (1971).Psychiatric disorders of children with congenital rubella. New York: Brunner/Mazel.Google Scholar
  6. Cohen, D. J., Caparulo, B. K., Shaywitz, B. A., & Bowers, M. B. (1977). Dopamine and serotonin metabolism in neuropsychiatrically disturbed children.Archives of General Psychiatry, 34, 545–550.PubMedGoogle Scholar
  7. Coleman, M. (Ed.). (1976).The autistic syndromes. Amsterdam: North-Holland.Google Scholar
  8. Coleman, M., Landgrebe, M. A., & Landgrebe, A. R. (1976a). Purine autism. Hyperuricosuria in autistic children; does this identify a subgroup of autism? In M. Coleman (Ed.),The autistic syndromes. Amsterdam: North-Holland.Google Scholar
  9. Coleman, M., Landgrebe, M. A.,& Landgrebe, A. R. (1976b). Celiac autism. Calcium studies and their relationship to celiac disease in autistic patients. in M. Coleman (Ed.),The autistic syndromes. Amsterdam: North-Holland.Google Scholar
  10. Coleman, M., & Rimland, B. (1976). Familial autism. In M. Coleman (Ed.),The autistic syndromes. Amsterdam: North-Holland.Google Scholar
  11. DeMyer, M. K., Schwier, H., Bryson, C. Q., Solow, E. B., & Roeske, N. (1971). Free fatty acid response to insulin and glucose stimulation in schizophrenic, autistic and emotionally disturbed children.Journal of Autism and Childhood Schizophrenia, 1, 436–452.PubMedGoogle Scholar
  12. Friedman, E. (1969). The “autistic syndrome” and phenylketonuria.Schizophrenia,249.Google Scholar
  13. Goldstein, M., Mahanand, D., Lee, J., & Coleman, M. (1976). Dopamine-eta-hydroxylase and endogenous total 5-hydroxyindole leels in autistic patients and controls. In M. Coleman (Ed.),The autistic syndromes. Amsterdam: North-Holland.Google Scholar
  14. Hartmann, A. F., Wohltmann, H. S., Purkerson, M. L., & Wesley, M. E. (1962). Lactate metabolism — studies of a child with serious congenital deviation.Journal of Pediatrics, 61, 165.PubMedGoogle Scholar
  15. Haworth, J. C., Ford, J. D., & Younoszai, M. K. (1967). Familial chronic acidosis due to an error in lactate and pyruvate metabolism.Google Scholar
  16. Himwich, H. E., Jenkins, R. L., Fujimori, M., Narasimhachari, N., & Ebersole, M. (1972). A biochemical study of early infantile autism.Journal of Autism and Childhood Schizophrenia, 2, 114–126.PubMedGoogle Scholar
  17. Kanner, L. (1943). Autistic disturbances in affective contact.Nervous Child, 2, 217.Google Scholar
  18. Knobloch, H., & Pasamanick, B. (1975). Some etiologic and prognostic factors in early infantile autism and psychosis.Journal of Pediatrics, 55, 182.Google Scholar
  19. Kuroda, Y., et al. (1979). Abnormal pyruvate and alpha-ketoglutarate dehydrogenase complexes in a patient with lactic acidemia.Pediatric Research, 13, 928.PubMedGoogle Scholar
  20. Lake, C. R., Ziegler, M. G., & Murphy, D. L. (1977). Increased norepinephrine levels and decreased dopamine-beta-hydroxylase activity in primary autism.Archives of General Psychiatry, 34, 553–556.PubMedGoogle Scholar
  21. Landgrebe, A. R., & Landgrebe, M. A. (1976). urinary catecholamine studies in autistic children. In M. Coleman (Ed.),The autistic syndromes. Amsterdam: North-Holland.Google Scholar
  22. Nyhan, W. L., James, J. A., Tebert, A. J., Sweetman, L., & Nelson, L. G. (1969). A new disorder of purine metabolism with behavioral manifestations.Journal of Pediatrics, 74, 20.PubMedGoogle Scholar
  23. Schain, R. J., & Freedman, D. X. (1961). Studies on 5-hydroxyindole metabolism in autistic and other mentally retarded children.Journal of Pediatrics, 58, 315.PubMedGoogle Scholar
  24. Schain, R. J., & Yannet, H. (1960). Infantile autism. An analysis of 50 cases and a consideration of certain relevant neurophysiologic concepts.Journal of Pediatrics, 57, 560.PubMedGoogle Scholar
  25. Valente, M. (1971). Autism: Symptomatic and idiopathic — and mental retardation.Pediatrics, 48, 495–496.PubMedGoogle Scholar
  26. Yuwiler, A., Plotkin, S., Geller, E., & Ritvo, E. R. (1970). A rapid accurate procedure for the determination of serotonin in whole human blood.Biochemical Medicine, 3, 426.PubMedGoogle Scholar

Copyright information

© Plenum Publishing Corporation 1985

Authors and Affiliations

  • Mary Coleman
    • 2
  • John P. Blass
    • 3
  1. 1.Washington, D.C.
  2. 2.Georgetown University School of MedicineUSA
  3. 3.Cornell University Medical CollegeUSA

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