Phosphoglycerate Kinase Deficiency

This is a defect in the phosphoglycerate kinase enzyme, which leads to difficulty breaking down sugar for energy. Not only affects the muscles, but can caused anemia, enlarged spleen,
mental retardation, epilepsy, seizures, and in rare cases, exercise intolerance, muscle pain and weakness, rust colored urine from muscle breakdown (myoglobinuria). Can be X linked recessive or autosomal recessive. Usually affects males, females are usually carriers.

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