Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V)

Quinlivan, R.; Martinuzzi, Andrea; Schöser, Benedikt

doi:10.1002/14651858.cd003458.pub5

Cited by 69 publications

(30 citation statements)

References 54 publications

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“…A Cochrane review from 2014 found no new trials since the previous review in 2004 29. The management currently relies on attempting to reduce the risk of developing episodes of rhabdomyolysis.…”

Section: An Overview Of Some Diseases To Consider In Adultsmentioning

confidence: 99%

Metabolic myopathies: a practical approach

et al. 2017

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Metabolic myopathies are a diverse group of rare genetic disorders and their associated muscle symptoms may be subtle. Patients may present with indolent myopathic features, exercise intolerance or recurrent rhabdomyolysis. Diagnostic delays are common and clinicians need a high index of suspicion to recognise and differentiate metabolic myopathies from other conditions that present in a similar fashion. Standard laboratory tests may be normal or non-specific, particularly between symptomatic episodes. Targeted enzyme activity measurement and next-generation genetic sequencing are increasingly used. There are now specific enzyme replacement therapies available, and other metabolic strategies and gene therapies are undergoing clinical trials. Here, we discuss our approach to the adult patient with suspected metabolic myopathy. We outline key features in the history and examination and discuss some mimics of metabolic myopathies. We highlight some disorders of glycogen and fatty acid utilisation that present in adulthood and outline current recommendations on management.

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Section: An Overview Of Some Diseases To Consider In Adultsmentioning

confidence: 99%

Metabolic myopathies: a practical approach

et al. 2017

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“…The interpretation is that a decreased central drive to ventilate in postmenopausal women allowed for small increases in PCO 2 McArdle's syndrome (glycogen-storage disease type V), characterized by the absence of functional glycogen phosphorylase in striated muscle, mainly results from a missense mutation in the myophosphorylase (PYGM) gene (245). Affected individuals experience reduced exercise tolerance, muscle fatigability, and weakness; muscle cramps and pain can be provoked by exercise.…”

Section: Menopausementioning

confidence: 99%

“…However, when carbon for oxidative phosphorylation is provided as exogenous glucose or fatty acids, there appears to be no impairment of oxidative phosphorylation (166). Therefore, muscle activity is highly dependent on free fatty acid (FFA) and amino acid oxidation (245). Accordingly, oxygen consumption is 35% to 40% of that seen in normal muscle when inadequate substrate for oxidation is provided (166).…”

Section: Menopausementioning

confidence: 99%

Effects of Gas Exchange on Acid‐Base Balance

Lindinger

Heigenhauser

2012

Comprehensive Physiology

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This paper describes the interactions between ventilation and acid-base balance under a variety of conditions including rest, exercise, altitude, pregnancy, and various muscle, respiratory, cardiac, and renal pathologies. We introduce the physicochemical approach to assessing acid-base status and demonstrate how this approach can be used to quantify the origins of acid-base disorders using examples from the literature. The relationships between chemoreceptor and metaboreceptor control of ventilation and acid-base balance summarized here for adults, youth, and in various pathological conditions. There is a dynamic interplay between disturbances in acid-base balance, that is, exercise, that affect ventilation as well as imposed or pathological disturbances of ventilation that affect acid-base balance. Interactions between ventilation and acid-base balance are highlighted for moderate- to high-intensity exercise, altitude, induced acidosis and alkalosis, pregnancy, obesity, and some pathological conditions. In many situations, complete acid-base data are lacking, indicating a need for further research aimed at elucidating mechanistic bases for relationships between alterations in acid-base state and the ventilatory responses.

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“…While many studies have explored dietary intervention in McArdle disease, at present there are no nutritional or pharmacological treatment recommendations [10]. As such, patients are left to explore alternative options (such as a LCKD) to address the insidious effects of this glycogen storage disease.…”

Section: Introductionmentioning

confidence: 99%