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Abstract
Primary metabolic myopathy as a type of congenital myopathies was first described by McArdle in 1951. Glycogen storage disease is a disease caused by genetic mutations involved in glycogen synthesis, glycogenolysis or glycolysis. Several types of glycogen storage disease are known to cause metabolic myopathies. We report a case of adult onset metabolic myopathy with glycogen storage. (Korean J Clin Neurophysiol 2014;16:81-85)
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Figure 1.
Axial T1 image of Muscle MRI (3.0 T). Left upper arm (A) and left thigh (B) showed no definite atrophy or fat accumulation. MRI; magnetic resonance image.
Figure 2.
(A, B) Light microscopic findings of biopsied muscle. Mild size variation of muscle fibers and some sub-sarcolemmar vacuoles are observed, annotated with arrows (A: Hematoxylin eosin stain ×200. B: PAS stain, ×400). (C, D) Electron microscopic findings of biopsied muscle. Glycogen particles and fat vacuoles are accumulated in subsarcolemmal and sarcomeric areas (×2,000).
Table 1.
Results of ischemic forearm test. Although serum ammonia level showed normal incremental response, serum lactic acid and pyruvate level remained unchanged
| Time | Lactic acid, mmol/L | Ammonia, ug/dL | Pyruvate, mg/dL |
|---|---|---|---|
| Basal | 0.7 | 65▲ | 0.5 |
| 1 min | 0.7 | 615▲ | 0.4 |
| 2 min | 0.7 | 416▲ | 0.6 |
| 3 min | 0.7 | 323▲ | 0.7 |
| 5 min | 0.8 | 241▲ | 0.7 |
| 10 min | 0.9 | 168▲ | 0.6 |
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