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Phosphoglycerate Kinase Deficiency (PGK)
Definition - one of a group of muscle diseases
that interfere with the processing of carbohydrates to draw energy from food
Cause - a genetic defect in the phosphoglycerate kinase enzyme, which
affects the processing of carbohydrates for fuel
Onset - infancy to early adulthood
Symptoms - may cause anemia, enlargement of the spleen, mental
retardation and epilepsy; more rarely, weakness, exercise intolerance, muscle
cramps and episodes of myoglobinuria (rust-colored urine indicating breakdown
of muscle tissue)
