title: PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose.
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.
authors.affiliation: Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address: nicol.voermans@radboudumc.nl.
authors.forename: N C
authors.initials: NC
authors.lastname: Voermans
authors.affiliation: Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.
authors.forename: N
authors.initials: N
authors.lastname: Preisler
authors.affiliation: Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.
authors.forename: K L
authors.initials: KL
authors.lastname: Madsen
authors.affiliation: Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: M C H
authors.initials: MC
authors.lastname: Janssen
authors.affiliation: Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: B
authors.initials: B
authors.lastname: Kusters
authors.affiliation: Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands; Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: N
authors.initials: N
authors.lastname: Abu Bakar
authors.affiliation: Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: F
authors.initials: F
authors.lastname: Conte
authors.affiliation: Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: V M L
authors.initials: VM
authors.lastname: Lamberti
authors.affiliation: Department of Rehabilitation, Radboud University Medical Centre, Nijmegen, The Netherlands; Rehabilitation Centre de Vogellanden, Zwolle, The Netherlands.
authors.forename: F
authors.initials: F
authors.lastname: Nusman
authors.affiliation: Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: B G
authors.initials: BG
authors.lastname: van Engelen
authors.affiliation: Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: van Scherpenzeel
authors.affiliation: Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.
authors.forename: J
authors.initials: J
authors.lastname: Vissing
authors.affiliation: Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands; Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: D J
authors.initials: DJ
authors.lastname: Lefeber
mesh_terms: D015444:Exercise / Q000502:physiology; D005690:Galactose / Q000494:pharmacology*; D006008:Glycogen Storage Disease / Q000188:drug therapy* / Q000378:metabolism*; D006801:Humans; D008297:Male; D008875:Middle Aged
chemical_list: D005690:Galactose
keywords: Congenital disorder of protein N-glycosylation; Glycogen Storage Disease type XIV; Oral galactose treatment; PGM1 deficiency; Phosphoglucomutase 1