Adenosine monophosphate deaminase 1 deficiency
Other Names for this Disease
- AMP deaminase 1 deficiency
- Myoadenylate deaminase deficiency
- AMPD1 deficiency
- Myopathy due to myoadenylate deaminase deficiency
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Treatment in the form of exercise modulation is recommended. Unfortunately, there is no medical cure for this disorder. One possibility for management is the administration of D-ribose. This pentose is easily absorbed in the gut and rapidly cleared by metabolic pathways. It presumably serves as an additional source of energy for muscle, and is only efficient as long as it is present in blood. Due to its short half-life, it has to be taken constantly to be beneficial. Dosing is also difficult as too little has no effect and too much causes diarrhea. These limitations are major limitations. In addition, ribose is not approved by an organization for the treatment of patients. Xylitol, which can be metabolically converted to ribose, has also been reported to be beneficial. Genetic approaches may be feasible in the future for inherited cases, whereas treatment of the underlying condition is essential in secondary cases.
Last updated: 5/12/2009
- Purine and Pyrimidine Metabolism Disorders . The Merck Manuals Online Medical Library . 2005; http://www.merck.com/mmpe/sec19/ch296/ch296i.html. Accessed 5/12/2009.
- Gross M. Orphanet. September 2001; http://www.orpha.net/data/patho/GB/uk-AMPD.pdf. Accessed 5/12/2009.
- Sabina RL, Holmes EW. Myoadenylate Deaminase Deficiency. The Molecular and Metabolic Bases of Genetic Diseases, 8th edition. New York, NY: McGraw Hill; 2001;
- Harris JC. Chapter 89 - Disorders of Purine and Pyrimidine Metabolism. Nelson Textbook of Pediatrics, 18th edition. Saunders; 2007;
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.