Genetics of Tarui Disease (Glycogen-Storage Disease Type VII or Phosphofructokinase Deficiency) Treatment & Management

Updated: May 21, 2018
  • Author: Renee J Chosed, PhD; Chief Editor: Maria Descartes, MD  more...
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Treatment

Medical Care

Specific medical treatment is not required for Tarui disease (glycogen-storage disease type VII). However, patients are advised to avoid sucrose and high-carbohydrate meals because they may exacerbate the exercise intolerance.

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Activity

Instruct patients with Tarui disease to avoid vigorous exercise because it may lead to myoglobinuria.

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Prevention

Prenatal detection is possible in families with identifiable mutations.

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Long-Term Monitoring

Monitor renal function on a regular basis if a patient with Tarui disease (glycogen-storage disease type VII) has myoglobinuria.

Monitor hemoglobin and reticulocyte counts.

If the patient has hyperbilirubinemia, perform ultrasonography to evaluate for gallstones.

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