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Muscle phosphoglycerate mutase deficiency.

S DiMauro, A F Miranda, M Olarte

    Neurology
    |June 1, 1982
    PubMed
    Summary
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    This study identifies a rare genetic disorder affecting muscle phosphoglycerate mutase (PGAM) enzyme activity. The defect causes exercise-induced cramps and pigmenturia due to impaired energy production in muscles.

    Area of Science:

    • Biochemistry
    • Human Physiology
    • Genetics

    Background:

    • Investigating the biochemical basis of exercise intolerance.
    • Understanding the role of glycolytic enzymes in muscle function.

    Observation:

    • A patient presented with adolescent-onset exercise-induced cramps and pigmenturia.
    • Abnormally low venous lactate rise after ischemic exercise and increased muscle glycogen were noted.
    • Muscle biopsy revealed significantly reduced phosphoglycerate mutase (PGAM) activity.

    Findings:

    • The patient's muscle PGAM activity was only 5.7% of normal controls.
    • Electrophoretic studies identified the brain (BB) isoenzyme as the source of residual PGAM activity.
    • This suggests a genetic defect in the muscle (M) subunit of PGAM.

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    Implications:

    • The findings pinpoint a specific enzyme defect causing a rare metabolic myopathy.
    • Understanding PGAM isoenzymes explains the muscle-specific symptoms.
    • This research contributes to the diagnosis and understanding of exercise-related muscle disorders.