Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency

Nicolai Preisler, Pascal Laforêt, Andoni Echaniz-Laguna, Mette C Ørngreen, Evelyne Lonsdorfer-Wolf, Stephane Doutreleau, Bernard Geny, Tanya Stojkovic, Monique Piraud, François M Petit, John Vissing

27 Citations (Scopus)

Abstract

Phosphoglucomutase type 1 (PGM1) deficiency is a rare metabolic myopathy in which symptoms are provoked by exercise.
Original languageEnglish
JournalThe Journal of clinical endocrinology and metabolism
Volume98
Issue number7
Pages (from-to)E1235-40
ISSN0021-972X
DOIs
Publication statusPublished - Jul 2013

Keywords

  • Adult
  • Bicycling
  • Carbohydrate Metabolism
  • Exercise Test
  • Exercise Tolerance
  • Glucose
  • Glycogen Storage Disease
  • Heart Rate
  • Humans
  • Hypoglycemia
  • Infusions, Intravenous
  • Lactic Acid
  • Lipid Metabolism
  • Male
  • Motor Activity
  • Muscle, Skeletal
  • Muscular Diseases
  • Oxygen Consumption
  • Severity of Illness Index

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