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The Capital Region of Denmark - a part of Copenhagen University Hospital
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No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency

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This case report investigated exercise metabolism and the effect of oral sucrose and intravenous glucose supplementation in a 30-year-old, mildly affected man with muscle phosphorylase b kinase (PHK) deficiency caused by a novel c.586G>A mutation in the PHKA1 gene. Only 12 patients with PHK deficiency have been reported and it is unclear to what extent patients exhibit symptoms during exercise. Carbohydrate and fat metabolism were measured during 30 min of exercise at ∼ 70% of peak oxidative capacity using stabile isotope technique and signaling proteins and enzymes in the energy pathway were analyzed by Western blot. Results were compared to four healthy subjects. These studies show that neither oral nor intravenous glucose improved exercise tolerance in this patient with PHK deficiency. Despite Western blots indicated affected metabolism on protein level, systemic substrate turnover studies showed that carbohydrate and fatty acid oxidations were normal.

Original languageEnglish
JournalNeuromuscular disorders : NMD
Volume30
Issue number4
Pages (from-to)340-345
Number of pages6
ISSN0960-8966
DOIs
Publication statusPublished - Apr 2020

ID: 61136636