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 from 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 could also be helpful for AMPD patients, as it provides an alternative source of energy for anaerobic muscle tissue and was found to be helpful in the treatment of other, unrelated muscular myopathies.
Adenosine monophosphate deaminase deficiency type 1
Adenosine deaminase 2 deficiency
Adenosine deaminase deficiency
Galactose-1-phosphate uridylyltransferase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Ornithine aminotransferase deficiency
Ribose-5-phosphate isomerase deficiency
Adenine phosphoribosyltransferase deficiency