Adenosine Monophosphate Deaminase Deficiency Type 1 - Treatment

Treatment

It is important for MADD patients to maintain strength and fitness without exercising or working to exhaustion. Learning this balance may be more difficult than normally, as muscle pain and fatigue may be perceived differently than normal individuals.

Symptomatic relief from the effects of MADD may sometimes be achieved by administering ribose orally at a dose of approximately 10 grams per 100 pounds (0.2 g/kg) of body weight per day. and exercise modulation as appropriate. Taken hourly, ribose provides a direct but limited source of energy for the cells. Patients with myoadenylate deaminase deficiency do not retain ribose during heavy exercise, so supplementation may be required to rebuild levels of ATP.

Creatine monohydrate is also helpful for AMPD patients, as it provides an alternative source of energy for anaerobic muscle tissue. There is also clinical association of various muscular dystrophies with Restless Legs Syndrome (RLS), which needs further clinical study for confirmation.

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