[The histochemical formation of the myoadenylate deaminase reaction in human skeletal musculature].

Abstract

Muscle biopsies from control subjects, patients with neuromuscular diseases and premature infants and neonates were investigated for myoadenylate deaminase activity (MAD) by histochemistry. A histochemically picture of MAD-deficiency is more frequently then the clinically defined MAD-deficiency syndrome with an autosomal recessive pattern of inheritance. The high incidence of the carrier state, secondary MAD-deficiency and connections with other diseases are the causes. An individual predisposition for loading crisis of these patients in a high physical stress situation is probable.