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

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@article{af9744a287c34365bfb4f8f41ee6474e,
title = "No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency",
abstract = "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.",
author = "Andersen, {A G} and {\O}rngreen, {M C} and Raaschou-Pedersen, {D E T} and Borch, {J de Stricker} and N L{\o}kken and Krag, {T O} and Petersen, {M B} and J Vissing",
note = "Copyright {\textcopyright} 2020 Elsevier B.V. All rights reserved.",
year = "2020",
month = apr,
doi = "10.1016/j.nmd.2020.02.008",
language = "English",
volume = "30",
pages = "340--345",
journal = "Neuromuscular Disorders",
issn = "0960-8966",
publisher = "Elsevier Ltd",
number = "4",

}

RIS

TY - JOUR

T1 - No effect of oral sucrose or IV glucose during exercise in phosphorylase b kinase deficiency

AU - Andersen, A G

AU - Ørngreen, M C

AU - Raaschou-Pedersen, D E T

AU - Borch, J de Stricker

AU - Løkken, N

AU - Krag, T O

AU - Petersen, M B

AU - Vissing, J

N1 - Copyright © 2020 Elsevier B.V. All rights reserved.

PY - 2020/4

Y1 - 2020/4

N2 - 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.

AB - 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.

U2 - 10.1016/j.nmd.2020.02.008

DO - 10.1016/j.nmd.2020.02.008

M3 - Journal article

C2 - 32303402

VL - 30

SP - 340

EP - 345

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 4

ER -

ID: 61136636