?:definition
|
-
A rare, autosomal recessive, inherited, metabolic disorder that is caused by mutation of the PFKM gene, resulting in the deficiency of the M subunit of the phosphofructokinase enzyme. It is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise; affected infants develop muscle weakness. Patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness.
|