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Mitochondrial changes in muscle phosphoglycerate kinase deficiency
J M Schröder1, R Dodel, J Weis
1Institut für Neuropathologie, Julius Maximilians-Universität Würzburg, Germany.
Clinical Neuropathology
|January 1, 1996
Summary
X-linked phosphoglycerate kinase deficiency, a rare metabolic disorder, impairs ATP production, leading to muscle weakness and exercise intolerance. This case highlights mitochondrial involvement in symptomatic PGK deficiency.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- X-linked phosphoglycerate kinase (PGK) deficiency is a rare glycolytic pathway disorder impacting ATP production.
- Clinical manifestations include hemolytic anemia, CNS disturbances, and myopathy.
- Myopathy symptoms encompass weakness, cramps, exercise intolerance, and myoglobinuria.
Observation:
- A 23-year-old male presented with exercise-induced muscular weakness, cramps, rhabdomyolysis, and renal failure.
- Muscle biopsy revealed significantly reduced PGK activity (11.5% of normal) and increased glycogen.
- Mitochondrial glycogen accumulation and unusual matrix granules were observed in muscle fibers and endothelial cells.
Findings:
- Muscle biochemical analysis confirmed markedly reduced PGK activity.
- Histological examination showed glycogen accumulation in muscle fibers and mitochondria.
- Sural nerve biopsy indicated scattered large hypomyelinated axons without demyelination/remyelination.
Implications:
- This case demonstrates symptomatic PGK deficiency with significant mitochondrial involvement.
- Findings suggest mitochondria play a crucial role in the pathophysiology of PGK deficiency-induced myopathy.
- Further research into mitochondrial function in glycolytic disorders is warranted.