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.

中文翻译：

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运动期间口服蔗糖或静脉注射葡萄糖对磷酸化酶 b 激酶缺乏症没有影响

本病例报告调查了运动代谢以及口服蔗糖和静脉注射葡萄糖补充剂对 30 岁轻度受影响男性的影响，该男性患有肌肉磷酸化酶 b 激酶 (PHK) 缺乏症，该缺陷由 PHKA1 基因中的新型 c.586G>A 突变引起. 仅报告了 12 名 PHK 缺乏症患者，尚不清楚患者在运动期间表现出何种程度的症状。碳水化合物和脂肪代谢在运动 30 分钟期间使用稳定同位素技术测量峰值氧化能力的约 70%，并通过蛋白质印迹分析能量通路中的信号蛋白和酶。结果与四名健康受试者进行了比较。这些研究表明，口服或静脉注射葡萄糖均未改善该 PHK 缺乏症患者的运动耐量。