Background: The homozygous c.34C>T stop mutation in AMPD1 leads to AMP deaminase deficiency in skeletal muscle. The clinical impact and compensatory mechanisms are not known. Methods: 294 patients were screened for c.34C>T mutation. Clinical data were compared with biochemical and histochemical data, different 5’ nucleotidases in skeletal muscles were measured. Patients underwent a standardized ischemic forearm exercise test. Results: There were no differences for the c.34C>T allele frequencies in healthy controls, patients with myalgia and defined myopathies. AMP deaminase deficiency was not associated with a specific phenotype. There were no differences in the activities of 5’ nucleotidases in the skeletal muscle of patients with and without c.34C>T mutation. Conclusions: A clinical impact of AMP deaminase deficiency, an increased expression or altered kinetics of the 5’ nucleotidases in AMP deaminase deficiency could not be found. AMP deaminase deficiency does not seem to influence glycolysis at short term and high intensity workload.