Abstract
A 13-year-old Turkish girl was admitted because of recurrent episodes of muscle pain and weakness since the age of 5 years. As an outpatient she developed severe acute rhabdomyolysis (myoglobinuria and increased serum creatine kinase level of 19000 units/l). The acute rhabdomyolysis and the preceding episodes of muscle pain and weakness had been induced by exercise. There was no increase in plasma ammonia level during ischaemic forearm exercise test and bicycle ergometry. Myoadenylate deaminase deficiency was proven both histochemically and biochemically. The girl was found to be homozygous for the C 34-T mutation of the AMPD1 gene causing primary myoadenylate deaminase deficiency in skeletal muscle. Both parents and her brother were heterozygous for that mutation. Myoadenylate deaminase deficiency has to be considered as a cause of severe rhabdomyolysis.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Abbreviations
- CK:
-
creatine kinase
- CPT:
-
carnitine palmitoyl transferase
- MAD:
-
myoadenylate deaminase
- MADD:
-
myoadenylate deaminase deficiency
References
Ashwal S, Peckham N (1985) Myoadenylate deaminase deficiency in children. Pediatr Neurol 1:185–191
Deufel T, Wieland O (1983) Sensitive assay of carnitine palmitoyl transferase activity in tissue homogenates with a modified spectrometric method for enzymatic carnitine determination. Clin Chim Acta 135:247–251
DiMauro S, Papadimitriou A (1986) Carnitine palmitoyltransferase deficiency In: Engel AG, Banker BQ (eds) Myology. McGraw-Hill, New York, pp 1697–1708
DiMauro S, Miranda AF, Hays AP, Franck WA, Hoffman GS, Schoenfeldt RS, Singh N (1980) Myoadenylate deaminase deficiency. Muscle biopsy and muscle culture in a patient with gout. J Neurol Sci 47:191–202
Fishbein WN (1986) Myoadenylate deaminase deficiency. In: Engel AG, Banker BQ (eds) Myology. McGraw-Hill, New York, pp 1745–1762
Fishbein WN, Griffin JL, Armbrustmacher VW (1980) Stain for skeletal muscle adenylate deaminase. An effective tetrazolium stain for frozen biopsy specimens. Arch Pathol Lab Med 104:462–466
Goebel HH, Bardosi A (1987) Myoadenylate deaminase deficiency. Klin Wochenschr 65:1023–1033
Morisaki T, Gross M, Morisaki H (1992) Molecular basis of AMP deaminase deficiency. Proc Natl Acad Sci (in press)
Penn AS (1986) Myoglobinuria. In: Engel AG, Banker BQ (eds) Myology. McGraw-Hill, New York, pp 1785–1805
Reuschenbach C, Zierz S (1988) Mutant carnitine palmitoyl-transferase associated with myoadenylate deaminase deficiency in skeletal muscle. J Pediatr 112:600–603
Sabina RL, Swain JL, Holmes EW (1989) Myoadenylate deaminase deficiency. In: Scriver CR, Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 1184–1191
Shumate JB, Katnik R, Riuz M, Frieden C, Brooke MH, Caroll JE (1979) Myoadenylate deaminase deficiency. Muscle Nerve 2:213–216
Sinkeler SPT, Joosten EMG, Wevers RA, Oei TL, Jacobs AEM, Veerkamp JH, Hamel BCJ (1988) Myoadenylate deaminase deficiency: a clinical, genetic and biochemical study in nine families. Muscle Nerve 2:312–317
Valen PA, Nakayama DA, Veum JA, Wortmann RL (1986) Myoadenylate deaminase deficiency. Diagnosis by forearm ischemic exerise testing. Adv Exp Med Biol 195(B):525–528
Wagner DR, Felbel J, Gresser U, Zöllner N (1991) Muscle metabolism and red cell ATP/ADP concentration during bicycle ergometer in patients with AMPD-deficiency. Klin Wochenschr 69:251–255
Zimmer C, Altenkirch H, Dorfmüller-Küchlin S, Pongratz D, Paetzke I, Gosztonyi G (1991) Type 2a fibre rhabdomyolysis in myoadenylate deaminase deficiency. J Neurol 238:31–33
Zöllner N, Reiter S, Gross M, Pongratz D, Reimers CD, Gerbitz K, Paetzke I, Deufel T, Hübner G (1986) Myoadenylate deaminase deficiency: successful symptomatic therapy by high dose oral administration of ribose. Klin Wochenschr 64:1281–1290
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Baumeister, F.A.M., Gross, M., Wagner, D.R. et al. Myoadenylate deaminase deficiency with severe rhabdomyolysis. Eur J Pediatr 152, 513–515 (1993). https://doi.org/10.1007/BF01955062
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01955062