Case reportPGM1 deficiency: Substrate use during exercise and effect of treatment with galactose

- PGM1 deficiency is associated with severe exercise intolerance due to a block in skeletal muscle glycogenolytic capacity.
- Oral galactose treatment in adults with PGM1 deficiency is safe and improves walking distance.
- Galactose treatment tends to normalize skeletal muscle substrate use from fat to carbohydrates during exercise.

Mutations in PGM1 (phosphoglucomutase 1) cause Glycogen Storage Disease type XIV, which is also a congenital disorder of protein N-glycosylation. It presents throughout life as myopathy with additional systemic symptoms. We report the effect of oral galactose treatment during five months in a patient with biochemically and genetically confirmed PGM1 deficiency. The 12-minute-walking distance increased by 225 m (65%) and transferrin glycosylation was restored to near-normal levels. The exercise assessments showed a severe exercise intolerance due to a block in skeletal muscle glycogenolytic capacity and that galactose treatment tended to normalize skeletal muscle substrate use from fat to carbohydrates during exercise.