Fat and Carbohydrate Metabolism During Exercise in Phosphoglucomutase Type 1 Deficiency
Fat and Carbohydrate Metabolism During Exercise in Phosphoglucomutase Type 1 Deficiency
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DOI：
10.1210/jc.2013-1651
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发表时间：
2013-07-01
影响因子：
5.8
通讯作者：
Vissing, John
中科院分区：
文献类型：
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作者：
Preisler, Nicolai;Laforet, Pascal;Vissing, John
内容：磷酸葡萄糖变位酶1型（PGM 1）缺乏症是一种罕见的代谢性肌病，其症状是由运动引起的。目的：由于代谢阻滞接近葡萄糖进入糖酵解途径，我们假设静脉注射葡萄糖可以改善患者经历的运动不耐受。设计：这是一项实验性干预研究。设置：该研究在运动实验室进行。受试者：受试者是一名37岁的男性，经遗传学和生化学证实为PGM 1缺乏症，6名健康受试者。（峰值耗氧量的70%），并进行静脉葡萄糖输注试验。主要结果测量：测量了在有和没有静脉输注葡萄糖的亚极量运动期间的峰值工作能力和底物代谢。结果：患者的峰值工作能力正常，在峰值和次最大运动期间血浆乳酸增加。然而，心率降低11次/分钟（-1），峰值工作率增加12.5%，患者输注葡萄糖后运动更容易。这些结果与对照组形成对比，对照组没有改善。此外，病人往往成为低血糖在次最大exercise.Conclusions：本报告的特点是PGM 1缺乏症作为一种轻度的代谢性肌病，具有动态运动相关的症状，共同与麦卡德尔病，但没有第二风的现象，从而表明，该条件在临床上类似于其他部分酶的糖酵解缺陷。然而，输注葡萄糖后，心率降低11次/分（-1），峰值功率增加12.5%，患者认为运动更容易。
Context: Phosphoglucomutase type 1 (PGM1) deficiency is a rare metabolic myopathy in which symptoms are provoked by exercise.Objective: Because the metabolic block is proximal to the entry of glucose into the glycolytic pathway, we hypothesized that iv glucose could improve the exercise intolerance experienced by the patient.Design: This was an experimental intervention study.Setting: The study was conducted in an exercise laboratory.Subjects: Subjects were a 37-year-old man with genetically and biochemically verified PGM1 deficiency and 6 healthy subjects.Interventions: Cycle ergometer, peak and submaximal exercise (70% of peak oxygen consumption), and exercise with an iv glucose infusion tests were performed.Main Outcome Measures: Peak work capacity and substrate metabolism during submaximal exercise with and without an iv glucose infusion were measured.Results: Peak work capacity in the patient was normal, as were increases in plasma lactate during peak and submaximal exercise. However, the heart rate decreased 11 beats minute(-1), the peak work rate increased 12.5%, and exercise was rated as being easier with glucose infusion in the patient. These results were in contrast to those in the control group, in whom no improvements occurred. In addition, the patient tended to become hypoglycemic during submaximal exercise.Conclusions: This report characterizes PGM1 deficiency as a mild metabolic myopathy that has dynamic exercise-related symptoms in common with McArdle disease but no second wind phenomenon, thus suggesting that the condition clinically resembles other partial enzymatic defects of glycolysis. However, with glucose infusion, the heart rate decreased 11 beats min(-1), the peak work rate increased 12.5%, and exercise was considered easier by the patient.