Abstract
Myoadenylate deaminase (mAMPD) deficiency occurs in primary (inherited) and secondary (acquired) forms (1). Clinically, inherited mAMPD deficiency is accompanied by exercise intolerance, muscle cramping, and myalgia. At the molecular level inherited mAMPD deficiency is characterized by normal transcript abundance without any immunoreactive mAMPD peptide (2). Recently, inherited mAMPD deficiency has been defined as a single point mutation in the human gene for myoadenylate deaminase (Ampdl) and is estimated to occur in 2% of the normal population (3).
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
W. N. Fishbein, Myoadenylate deaminase deficiency: inherited and acquired forms. Biochemical Medicine 33: 158–169 (1985).
R. L. Sabina, W. N. Fishbein, G. Pezeshkpour, P.R.H. Clark, and E. W. Holmes, Molecular analysis of the myoadenylate deaminase deficiencies. Neurology, in press.
M. Gross, H. Morisaki, T. Morisaki and E. Holmes, A common point mutation is responsible for AMP deaminase deficiency. International Journal of Purine and Pyrimidine Research 2 (supp 1): 50 (1991).
N. C. Kar and C. M. Pearson, Muscle adenylic acid deaminase activity: selective decrease in early-onset Duchenne muscular dystrophy. Neurology 23: 478–482 (1973).
H. Nagao, AMP deaminase activity of skeletal muscle in neuromuscular disorders in childhood: histochemical and biochemical studies. Neuropediatrics 17: 193–198 (1973).
A. Bohan and J. B. Peter, Polymyositis and dermatomyositis (first of two parts) New England. Journal of Medicine 292: 344–347 (1975).
R. L. Sabina, J. L. Swain, and E. W. Holmes, Myoadenylate deaminase deficiency, in: The Metabolic Basis of Inherited Disease, 6th Edition. C. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill, New York, 1077–1084 (1989).
R. L. Sabina, et al, Myoadenylate deaminase deficiency: functional and metabolic abnormalities associated with disruption of purine nucleotide cycle. Journal of Clinical Investigation 73: 720–730 (1984).
R. L. Sabina, R. Marquetant, N. M. Desai, K. Kaletha, and E. W. Holmes, Cloning and sequence of rat myoadenylate deaminase cDNA: evidence for tissue-specific and developmental regulation. Journal of Biological Chemistry 262: 12397–12400 (1987).
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1991 Plenum Press, New York
About this chapter
Cite this chapter
Sabina, R.L., Sulaiman, A.R., Wortmann, R.L. (1991). Molecular Analysis of Acquired Myoadenylate Deaminase Deficiency in Polymyositis (Idiopathic Inflammatory Myopathy). In: Harkness, R.A., Elion, G.B., Zöllner, N. (eds) Purine and Pyrimidine Metabolism in Man VII. Advances in Experimental Medicine and Biology, vol 309B. Springer, New York, NY. https://doi.org/10.1007/978-1-4615-7703-4_46
Download citation
DOI: https://doi.org/10.1007/978-1-4615-7703-4_46
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4615-7705-8
Online ISBN: 978-1-4615-7703-4
eBook Packages: Springer Book Archive