Type VII Glycogen Storage Disease Clinical Presentation

Updated: Jan 24, 2019
  • Author: Wayne E Anderson, DO, FAHS, FAAN; Chief Editor: George T Griffing, MD  more...
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Presentation

History

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  • Severity varies based on an individual's enzyme activity level.

  • Symptoms include exercise intolerance (premature fatigability), weakness and stiffness with exercise, and painful muscle cramps. Symptoms resolve with rest.

  • Exercise intolerance is noted in childhood much earlier and is more severe in Tarui disease than in McArdle disease. The second wind phenomenon is not seen in Tarui disease as it is in McArdle disease. Haller and Vissing concluded that the inability to properly metabolize blood glucose prevents the spontaneous second wind. [7]

  • Exantus and colleagues report one case of acute renal failure secondary to rhabdomyolysis. [8]

  • Finsterer and colleagues report on one patient followed for several years. [9, 10] Neurologic symptoms believed attributable to Tarui disease include complex partial seizures, diplopia, hyporeflexia, central facial palsy, and upper extremity weakness.

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Physical

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  • Physical examination findings may be normal; therefore, clinical suspicion must be derived from patient history findings.

  • Laboratory and procedural studies may be helpful.

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Causes

Phosphofructokinase is made of 4 peptides. A genetic defect has been discovered in the muscle subunit locus.

In a study of 5 patients with muscle phosphofructokinase deficiency from different regions of Italy, Musumeci et al found 4 novel genetic mutations. [11]

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