PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose

N C Voermans; N Preisler; K L Madsen; M C H Janssen; B Kusters; N Abu Bakar; F Conte; V M L Lamberti; F Nusman; B G van Engelen; M van Scherpenzeel; J Vissing; D J Lefeber

doi:10.1016/j.nmd.2017.01.014

PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose

N C Voermans, N Preisler, K L Madsen, M C H Janssen, B Kusters, N Abu Bakar, F Conte, V M L Lamberti, F Nusman, B G van Engelen, M van Scherpenzeel, J Vissing, D J Lefeber

Department of Neurology

34 Citations (Scopus)

Abstract

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.

Original language	English
Journal	Neuromuscular disorders : NMD
Volume	27
Issue number	4
Pages (from-to)	370-376
Number of pages	7
ISSN	0960-8966
DOIs	https://doi.org/10.1016/j.nmd.2017.01.014
Publication status	Published - Apr 2017

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Voermans, N. C., Preisler, N., Madsen, K. L., Janssen, M. C. H., Kusters, B., Abu Bakar, N., Conte, F., Lamberti, V. M. L., Nusman, F., van Engelen, B. G., van Scherpenzeel, M., Vissing, J., & Lefeber, D. J. (2017). PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose. Neuromuscular disorders : NMD, 27(4), 370-376. https://doi.org/10.1016/j.nmd.2017.01.014

Voermans, NC, Preisler, N, Madsen, KL, Janssen, MCH, Kusters, B, Abu Bakar, N, Conte, F, Lamberti, VML, Nusman, F, van Engelen, BG, van Scherpenzeel, M, Vissing, J & Lefeber, DJ 2017, 'PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose', Neuromuscular disorders : NMD, vol. 27, no. 4, pp. 370-376. https://doi.org/10.1016/j.nmd.2017.01.014

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AU - Kusters, B

AU - Abu Bakar, N

AU - Conte, F

AU - Lamberti, V M L

AU - Nusman, F

AU - van Engelen, B G

AU - van Scherpenzeel, M

AU - Vissing, J

AU - Lefeber, D J

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AB - 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.

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PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose

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