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myoadenylate deaminase deficiency

      Re: myoadenylate deaminase deficiency

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Posted by ccf neuro M.D. on April 21, 1997 at 18:56:14:

In Reply to: myoadenylate deaminase deficiency posted by Bert Durgin on April 12, 1997 at 16:51:42:

: Can you tell me what research is being conducted on this diesease? I understand that it is a form of muscular distrophy, and I have contacted the local chapter of the muscular distrophy association, but other than give me a fact sheet they have been of little help in telling me what the present status of the research is. Who is working on this? Are there any research programs going that include clinical trials for medication or gene therapy? Where do I go to find out more about this painful condition?
  Thank You for Your Assistance
  Bert F. Durgin
Myoadenylate deaminase deficiency is a disease in which the muscular subtype of an enzyme called AMP deaminase is deficient. This blocks the muscles ability to convert "used up" ATP molecules, which are a metabolic source for energy in the muscles, along with a chemical called creatine kinase. This sometimes results clinically in cramping of the muscles with exertion, although as many as 2% of perfectly healthy people are deficient in this enzyme and have no symptoms whatsoever. The gene that produces the enzyme and its mechanism for regulation have been discovered. I am not aware of anyone in the world attempting to treat humans with gene therapy, however, in reviewing the recent medical literature on this disease, I would recommend that you attempt to contact a Dr. R. L. Sabina at the Medical College of Wisconsin, as s/he seems to be a dominant individual in the research of this disease. Unless you are willing to travel to Germany or Poland, I could not find any other close/ U.S. centers. Most often this
disease runs in families, and I believe there is a test on the affected DNA that can be run to detect it in other family members, if you indeed even wish to know. Genetic counseling is always a good idea in deciding whether or not to pursue such testing, particularly in the case of current or future children. If you are interested in seeing a Cleveland Clinic muscle doctor, I would recommend Dr. Kerry Levin or Dr. Robert Shields. An appointment with either could be made at 216-444-5559. I would suggest you attempt to contact Dr. Sabina regarding whether any human trials are going on for treatment of the disease.  

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