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

Institut for Klinisk Medicin

21 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	Neuromuscular Disorders
Vol/bind	27
Udgave nummer	4
Sider (fra-til)	370-376
ISSN	0960-8966
DOI	https://doi.org/10.1016/j.nmd.2017.01.014
Status	Udgivet - 1 apr. 2017

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10.1016/j.nmd.2017.01.014

Citationsformater

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, 27(4), 370-376. https://doi.org/10.1016/j.nmd.2017.01.014

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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.",

keywords = "Exercise/physiology, Galactose/pharmacology, Glycogen Storage Disease/drug therapy, Humans, Male, Middle Aged",

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

year = "2017",

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doi = "10.1016/j.nmd.2017.01.014",

language = "English",

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TY - JOUR

T1 - PGM1 deficiency

T2 - Substrate use during exercise and effect of treatment with galactose

AU - Voermans, N C

AU - Preisler, N

AU - Madsen, K L

AU - Janssen, M C H

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

PY - 2017/4/1

Y1 - 2017/4/1

N2 - 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.

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.

KW - Exercise/physiology

KW - Galactose/pharmacology

KW - Glycogen Storage Disease/drug therapy

KW - Humans

KW - Male

KW - Middle Aged

U2 - 10.1016/j.nmd.2017.01.014

DO - 10.1016/j.nmd.2017.01.014

M3 - Journal article

C2 - 28190645

SN - 0960-8966

VL - 27

SP - 370

EP - 376

JO - Journal of Neuromuscular Diseases

JF - Journal of Neuromuscular Diseases

IS - 4

ER -

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

Abstract

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