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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency

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Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftNeuromuscular disorders : NMD
Vol/bind30
Udgave nummer4
Sider (fra-til)340-345
Antal sider6
ISSN0960-8966
DOI
StatusUdgivet - apr. 2020

Bibliografisk note

Copyright © 2020 Elsevier B.V. All rights reserved.

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