Category «Exercise»

AMPD1 Deficiency — Varying effects of the polymorphism

AMPD1 Deficiency

Adenosine Monophosphate deaminase is an enzyme coded for by the gene AMPD1 and acts in the skeletal muscles to convert AMP to IMP.  There is one common polymorphism, C34T, that causes a decrease in function of this enzyme.  It is heterozygous in 10% – 15% in Caucasians and Africans, while  ~ 1% are homozygous for …