G.P.7 06 AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance

Abstract

The homozygous C34T mutation (Q12X) in the AMPD1 gene encoding the muscle-specific isoform of AMP deaminase (AMPD) accounts for the vast majority of inherited skeletal muscle AMPD deficiencies. Its function in vivo is not clear. It is controversial (i) whether AMPD deficiency is associated with exercise-induced complaints and (ii) whether an acquired form exists in which an underlying neuromuscular disorder additionally lowers the AMPD activity. (iii) Products of AMPD as IMP and NH3 have been proposed to be effectors of glycolytic enzymes in vitro.