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Muscle phosphoglycerate mutase deficiency: a study of a family with metabolic myopathy
K R Poulton1, A A Khan, M L Rossi
1Department of Neuropathology, Midland Centre for Neurosurgery & Neurology, Smethwick, Birmingham, England.
Abstract:
Muscle phosphoglycerate mutase deficiency results in a myopathic condition characterised by repeated cramps, possible myoglobinuria and muscle pain. We present a family with muscle phosphoglycerate mutase (PGaM) deficiency, mild glycogen storage and some exertional myalgia. Investigations of muscle biopsy tissue showed a residual PGaM activity in muscle due to a small amount of brain isoenzyme. The enzyme was also measured in blood cells and a full investigation of muscle metabolism was also carried out. Electron microscopy revealed mitochondria with similar morphological features in two patients investigated.
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