Skip to main content
SpringerLink
Log in

Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency

  • Published:
Agents and Actions Aims and scope Submit manuscript

Abstract

A patient with congenital lactic acidosis, muscular hypotonia and severe ataxia is reported. The aetiology of his disease was found to be a deficiency of pyruvate dehydrogenase (E.C. 4.1.1.1.). Thiamine treatment (1.8 g/day) was successful in correcting biochemical and clinical symptoms. The mechanism of its action is probably based on activation of pyruvate dehydrogenase through interference in the physiologic regulation.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. D. Lonsdale, W.R. Faulkner, J.W. Price andR.R. Smeby,Intermittent Cerebellar Ataxia Associated with Hyperpyruvic Acidemia, Hyperalaninemia, and Hyperalaninuria, Pediatrics43, 1025–1034 (1969).

    PubMed  Google Scholar 

  2. C. Wernicke,Lehrbuch der Gehrinkrankheiten für Aerzte und Studierende (Theodor Fischer, Berlin, 1881).

    Google Scholar 

  3. J.P. Blass, R.A.P. Kark andW.K. Engel,Clinical Studies of a Patient with Pyruvate Decarboxylase Deficiency, Arch. Neurol.25, 449–460 (1971).

    PubMed  Google Scholar 

  4. J.P. Blass, J. Avigan andB.W. Uhlendorf,A Defect in Pyruvate Decarboxylase in a Child with an Intermittent Movement Disorder, J. Clin. Invest.49, 423–432 (1970).

    PubMed  Google Scholar 

  5. J.P. Blass, J.D. Schulman, D.S. Young andE. Hom,An Inherited Defect Affecting the Tricarboxylic Acid Cycle in a Patient with Congenital Lactic Acidosis, J. Clin. Invest.51, 1845–1851 (1972).

    PubMed  Google Scholar 

  6. J.L. Willems, L.A.H. Mommens, J.M.F. Trijbels, R.C.A. Sengers andJ.H. Veerkamp,Pyruvate Decarboxylase Deficiency in Liver, N. Engl. J. Med.290, 406–407 (1974).

    Google Scholar 

  7. D.F. Farrell, A.F. Clark, C.R. Scott andR.P. Wennberg,Absence of Pyruvate Decarboxylase Activity in Man: A Cause of Congenital Lactic Acidosis, Science187, 1082–1084 (1974).

    Google Scholar 

  8. B.H. Robinson andW.G. Sherwood,Pyruvate Dehydrogenase Phosphatase Deficiency: A Cause of Congenital Chronic Lactic Acidosis in Infancy, Pediat. Res.9, 935–939 (1975).

    PubMed  Google Scholar 

  9. Y. Oka, I. Matsuda, S. Arashima, M. Anakura, T. Mitsuyama andI. Nagamatsu,Citrate Treatment in a Patient with Pyruvate Decarboxylase Deficiency, Tohoku J. exp. Med.118, 131–135 (1976).

    PubMed  Google Scholar 

  10. S.D. Cederbaum, J.P. Blass, N. Minkoff, W.J. Brown, Mary E. Cotton andSandra H. Harris,Sensitivity to Carbohydrate in a Patient with Familial Intermittent Lactic Acidosis and Pyruvate Dehydrogenase Deficiency, Pediat. Res.10, 713–720 (1976).

    PubMed  Google Scholar 

  11. J.H. Strömme, O. Borud andP.J. Moe,Fatal Lactic Acidosis in a Newborn Attributable to a Congenital Defect of Pyruvate Dehydrogenase, Pediat. Res.10, 60–66 (1976).

    Google Scholar 

  12. J.P. Blass, R.A.P. Kark andN.K. Menon,Low Activities of the Pyruvate and Oxoglutarate Dehydrogenase Complexes in Five Patients with Friedreich's Ataxia, N. Engl. J. Med.295, 62–67 (1976).

    PubMed  Google Scholar 

  13. J.C. Haworth, T.L. Perry, J.P. Blass, Shirley Hansen andNadine Urquhart,Lactic Acidosis in Three Sibs Due to Defects in Both Pyruvate Dehydrogenase and a-Ketoglutarate Dehydrogenase Complexes, Pediatrics58, 564–572 (1976).

    PubMed  Google Scholar 

  14. R.E. Falk, S.D. Cederbaum, J.P. Blass, Gary E. Gibson, R.A.P. Kark andR.E. Carrel,Ketonic Diet in the Management of Pyruvate Dehydrogenase Deficiency, Pediatrics58, 713–721 (1976).

    PubMed  Google Scholar 

  15. H. Wick, unpublished observation.

  16. T. Brechbühler, R. Baumgartner andH. Wick,Früherfassung von Stoffwechselkrankheiten bei Säuglingen: das erweiterte Screening-Programm bei kranken Säuglingen, Chemische Rundschau26, 15 (1973).

    Google Scholar 

  17. J.C.B. Fenton andA.H. Williams,Improved Method for the Estimation of Ammonia by Ion Exchange, J. Clin. Path.21, 14–18 (1968).

    PubMed  Google Scholar 

  18. J.P. Blass, S.D. Cederbaum andR.A.P. Kark,Rapid Diagnosis of Pyruvate and Ketoglutarate Dehydrogenase Deficiencies in Platelet-Enriched Preparations from Blood, Clinica Chimica Acta75, 21–30 (1977).

    Google Scholar 

  19. J. Fernandes andW. Blom,The Intravenous L-Alanine Tolerance Tests as a Means for Investigating Gluconeogenesis, Metabolism23, 1149–1156 (1974).

    PubMed  Google Scholar 

  20. H.A. Harper, G. Löffler, P.E. Petrides andL. Weiss,Physiologische Chemie, S. 283 (Springer, Berlin, Heidelberg, New York, 1975).

    Google Scholar 

  21. T.E. Roche andL.J. Reed,Function of the Nonidentical Subunits of Mammalian Pyruvate Dehydrogenase, Biochem. Biophys. Res. Commun.48, 840 (1972).

    PubMed  Google Scholar 

  22. F.A. Hommes, R. Berger andG. Luit-De-Haan,The Effect of Thiamine Treatment on the Activity of Pyruvate Dehydrogenase: Relation to the Treatment of Leigh's Encephalomyelopathy, Pediat. Res.7, 616–619 (1973).

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. University Children's Hospital, Römergasse 8, Ch-4058, Basel, Switzerland

    H. Wick, K. Schweizer & R. Baumgartner

Authors
  1. H. Wick
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. K. Schweizer
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. R. Baumgartner
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

Dedicated to K. Bucher on the occasion of his. 65th birthday.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wick, H., Schweizer, K. & Baumgartner, R. Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency. Agents and Actions 7, 405–410 (1977). https://doi.org/10.1007/BF01969575

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01969575

Keywords

Search

Navigation