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

Highlights • 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 u...

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Bibliographic Details
Published in:	Neuromuscular disorders : NMD Vol. 27; no. 4; pp. 370 - 376
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	England Elsevier B.V 01-04-2017
Subjects:	Congenital disorder of protein N-glycosylation Exercise - physiology Galactose - pharmacology Glycogen Storage Disease - drug therapy Glycogen Storage Disease - metabolism Glycogen Storage Disease type XIV Humans Male Middle Aged Neurology Oral galactose treatment PGM1 deficiency Phosphoglucomutase 1 oral galactose treatment phosphoglucomutase 1 Glycogen Storage Disease type XIV congenital disorder of protein N-glycosylation PGM1 deficiency Phosphoglucomutase 1 Oral galactose treatment Congenital disorder of protein N-glycosylation
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Summary:	Highlights • 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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2017.01.014