Is muscle glycogenolysis impaired in X-linked phosphorylase
            <i>b</i>
            kinase deficiency?

Ørngreen, Mette Cathrine; Schelhaas, Helenius J.; Jeppesen, Tina Dysgaard; Akman, Hasan O.; Wevers, R.A.; Andersen, Stig Kjær; Laak, H.J. ter; Diggelen, O. P. van; DiMauro, Salvatore; Vissing, John

doi:10.1212/01.wnl.0000289190.66955.67

Cited by 49 publications

(33 citation statements)

References 25 publications

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“…The increase in ammonia is due to an increased reliance on the adenylate kinase and the adenosine monophosphate (AMP)–deaminase pathway as a cellular attempt to provide an alternative source of anaerobic adenosine triphosphate (ATP). A normal forearm exercise test rules out essentially all of the glycolytic and glycogenolytic defects except for phosphorylase b kinase deficiency, where the blunting of lactate rise is best seen with aerobic exercise [76]. A muscle biopsy can be checked for specific phosphorylase or PFK enzyme activity at the histochemical level.…”

Section: Metabolic Myopathies and Rhabdomyolysismentioning

confidence: 99%

Perspectives on Exertional Rhabdomyolysis

2017

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Exertional (exercise-induced) rhabdomyolysis is a potentially life threatening condition that has been the subject of research, intense discussion, and media attention. The causes of rhabdomyolysis are numerous and can include direct muscle injury, unaccustomed exercise, ischemia, extreme temperatures, electrolyte abnormalities, endocrinologic conditions, genetic disorders, autoimmune disorders, infections, drugs, toxins, and venoms. The objective of this article is to review the literature on exertional rhabdomyolysis, identify precipitating factors, and examine the role of the dietary supplement creatine monohydrate. PubMed and SPORTDiscus databases were searched using the terms rhabdomyolysis, muscle damage, creatine, creatine supplementation, creatine monohydrate, and phosphocreatine. Additionally, the references of papers identified through this search were examined for relevant studies. A meta-analysis was not performed. Although the prevalence of rhabdomyolysis is low, instances still occur where exercise is improperly prescribed or used as punishment, or incomplete medical history is taken, and exertional rhabdomyolysis occurs. Creatine monohydrate does not appear to be a precipitating factor for exertional rhabdomyolysis. Healthcare professionals should be able to recognize the basic signs of exertional rhabdomyolysis so prompt treatment can be administered. For the risk of rhabdomyolysis to remain low, exercise testing and prescription must be properly conducted based on professional standards.

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Section: Metabolic Myopathies and Rhabdomyolysismentioning

confidence: 99%

Perspectives on Exertional Rhabdomyolysis

2017

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“…The baseline CK level may or may not be elevated 123 . In the FET, there is typically a normal rise in lactate and ammonia 121, 123 . During submaximal cycling exercise testing in 1 patient with known PHKA1 mutation, lactate failed to increase to the same degree as controls 121 , suggesting that abnormality of phosphorylase b kinase activity is more disruptive to glycogen metabolism and energy production during submaximal dynamic exercise than on strenuous isometric exercise 120 .…”

Section: Genetic Causes Of Rhabdomyolysismentioning

confidence: 99%

Diagnostic evaluation of rhabdomyolysis

2015

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Rhabdomyolysis is characterized by severe acute muscle injury resulting in muscle pain, weakness, and/or swelling with release of myofiber contents into the bloodstream. Symptoms develop over hours to days following an inciting factor and may be associated with dark pigmentation of the urine. Serum creatine kinase and urine myoglobin levels are markedly elevated. The clinical examination, history, laboratory studies, muscle biopsy, and genetic testing are useful tools for diagnosis of rhabdomyolysis, and they can help differentiate acquired from inherited causes of rhabdomyolysis. Acquired causes include substance abuse, medication or toxic exposures, electrolyte abnormalities, endocrine disturbance, and autoimmune myopathies. Inherited predisposition to rhabdomyolysis can occur with disorders of glycogen metabolism, fatty acid beta-oxidation, and mitochondrial oxidative phosphorylation. Less common inherited causes of rhabdomyolysis include structural myopathies, channelopathies, and sickle cell disease. This review focuses on the differentiation of acquired and inherited causes of rhabdomyolysis and proposes a practical diagnostic algorithm.

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“…Blood samples were drawn as shown in Figure 2. The tracer methodology has been described in detail elsewhere (8,10).…”

Section: Metabolism During Exercise (Day 2)mentioning

confidence: 99%

Fat and Carbohydrate Metabolism During Exercise in Phosphoglucomutase Type 1 Deficiency

Preisler

Laforêt

Echaniz‐Laguna

et al. 2013

The Journal of Clinical Endocrinology &Amp; Metabolism

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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 Ϫ1 , 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 Ϫ1 , the peak work rate increased 12.5%, and exercise was considered easier by the patient. (J Clin Endocrinol Metab 98: E1235-E1240, 2013)

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Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?

Cited by 49 publications

References 25 publications

Perspectives on Exertional Rhabdomyolysis

Perspectives on Exertional Rhabdomyolysis

Diagnostic evaluation of rhabdomyolysis

Fat and Carbohydrate Metabolism During Exercise in Phosphoglucomutase Type 1 Deficiency

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