Klinische Wochenschrift

, Volume 64, Issue 24, pp 1281–1290

Myoadenylate deaminase deficiency: Successful symptomatic therapy by high dose oral administration of ribose

  • N. Zöllner
  • S. Reiter
  • M. Gross
  • D. Pongratz
  • C. D. Reimers
  • K. Gerbitz
  • I. Paetzke
  • T. Deufel
  • G. Hübner
Originalien

DOI: 10.1007/BF01785710

Cite this article as:
Zöllner, N., Reiter, S., Gross, M. et al. Klin Wochenschr (1986) 64: 1281. doi:10.1007/BF01785710

Summary

A 55 years old patient suffering from exercise-induced muscle pain and stiffness due to primary myoadenylate deaminase deficiency has been successfully treated with D-ribose since 1984: single doses of 4 grams administered at the beginning of exercise prevented the symptoms completely; on continuation of exercise this dose had to be repeated all 10–30 min. Total doses of 50–60 g per day were tolerated without side-effects.

Key words

Myoadenylate-(adenylate-, AMP-)deaminase deficiencyD-ribose, metabolismDribose, untoward effectsHyperuricemia

Abbreviations

AMP, ADP, ATP

adenosine-5′-monophosphate, diphosphate, -triphosphate

GDP, GTP

guanosine-5′-diphosphate, -triphosphate

IMP

inosine-5′-monophosphate

MAD

myoadenylate deaminase

PRPP

Phosphoribosylpyrophosphate

Copyright information

© Springer-Verlag 1986

Authors and Affiliations

  • N. Zöllner
    • 1
  • S. Reiter
    • 1
  • M. Gross
    • 1
  • D. Pongratz
    • 2
  • C. D. Reimers
    • 2
  • K. Gerbitz
    • 3
  • I. Paetzke
    • 3
  • T. Deufel
    • 3
  • G. Hübner
    • 4
  1. 1.Medizinische Poliklinik der Universität MünchenGermany
  2. 2.Friedrich-Baur-Institut bei der Medizinischen Klinik Innenstadt der Universität MünchenGermany
  3. 3.Institut für Klinische Chemie des Städtischen Krankenhauses München-SchwabingGermany
  4. 4.Pathologisches Institut der Universität MünchenGermany