In this condition, a deficiency of the M subunit (PFKM) of the phosphofructokinase enzyme impairs the ability of cells such as erythrocytes and rhabdomyocytes (skeletal muscle cells) to use carbohydrates (such as glucose) for energy.
Hematuria, the presence of red blood cells (erythrocytes) in the urine
Laboratory findings include severe anemia, increased mean corpuscular volume (MCV, due to the presence of a large number of young erythrocytes), and hyperbilirubinemia (from increased red cell destruction) that can be of the conjugated or unconjugated type.