Treatment usually entails that the patient refrain from strenuous exercise to prevent muscle pain and cramping. Avoiding carbohydrates is also recommended. A ketogenic diet also improved the symptoms of an infant with PFK deficiency. The logic behind this treatment is that the low-carb high fat diet forces the body to use fatty acids as a primary energy source instead of glucose. This bypasses the enzymatic defect in glycolysis, lessening the impact of the mutated PFKM enzymes. This has not been widely studied enough to prove if it is a viable treatment, but testing is continuing to explore this option. Genetic testing to determine whether or not a person is a carrier of the mutated gene is also available.
Phosphofructokinase deficiency
Hexokinase deficiency
Enolase deficiency
Glutaminase deficiency
Pyruvate kinase deficiency
Malonyl-CoA decarboxylase deficiency
Pyruvate carboxylase deficiency
D-glycerate dehydrogenase deficiency