Literature DB >> 17396739

McArdle disease presenting as acute renal failure.

Jayasree Pillarisetti1, Awad Ahmed.   

Abstract

In 1951, McArdle described a glycogen storage disorder which presents primarily as a myopathy. It is characterized by muscle pain, weakness and exercise intolerance with elevated creatine kinase from rhabdomyolysis. The pathophysiology involves a deficiency of myophosphorylase enzyme resulting in an inability to degrade glycogen stores. We present a novel case of McArdle disease (glycogen storage disease V [GSDV]) in a patient who had sickle cell trait and bulimia. The disease went unrecognized despite several admissions to the hospital with increased creatine kinase and muscle myopathy until the patient's initial presentation with acute renal failure.

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Year:  2007        PMID: 17396739     DOI: 10.1097/01.smj.0000242355.27078.f3

Source DB:  PubMed          Journal:  South Med J        ISSN: 0038-4348            Impact factor:   0.954


  2 in total

1.  Clinical Presentation and Management of Severe Acute Renal Failure in McArdle Disease.

Authors:  Majdi Hamadeh; Khalil Nasrallah; Zeinab Ajami; Rahil Zeaiter; Layan Abbas; Samih Hamadeh; Jawad Fares
Journal:  Clin Med Res       Date:  2021-05-13

Review 2.  McArdle disease: a unique study model in sports medicine.

Authors:  Alfredo Santalla; Gisela Nogales-Gadea; Niels Ørtenblad; Astrid Brull; Noemi de Luna; Tomàs Pinós; Alejandro Lucia
Journal:  Sports Med       Date:  2014-11       Impact factor: 11.136

  2 in total

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