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Glycogen Storage Disease Type VII (Tarui's Disease) Summary

Description: An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.

Also Known As: Tarui's Disease; Deficiency, Muscle Phosphofructokinase; Muscle Phosphofructokinase Deficiency; Deficiencies, Muscle Phosphofructokinase; Disease, Tarui Show All >>

Networked: 29 relevant articles (1 outcomes, 2 trials/studies) for this Disease

Key Drugs and Agents for Glycogen Storage Disease Type VII

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Glucagon (Glukagon) : 1 outcome in 1 result : FDA 4
  2. Glucuronosyltransferase (UDP Glucuronosyltransferase) : 1 study in 1 result : IBA
  3. Insulin (Novolin) : 1 study in 1 result : FDA 2
  4. Glycogen : 6 results : IBA
  5. Phosphofructokinase-1 (Phosphofructokinase 1) : 3 results : IBA
  6. Glucose (Dextrose) : 3 results : FDA 175 Generic
  7. Calcium : 3 results : IBA
  8. Myophosphorylase deficiency : 3 results : IBA
  9. Lactic Acid : 2 results : FDA 4 Generic
  10. Uric Acid (Urate) : 2 results : IBA
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Diseases Related to Glycogen Storage Disease Type VII

  1. Glycogen Storage Disease Type V (McArdle's Disease)
  2. Glycogen Storage Disease (Glycogenosis)
  3. Gilbert Disease
  4. Glycogen Storage Disease Type VII (Tarui's Disease)
  5. Hyperuricemia
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Key Therapies for Glycogen Storage Disease Type VII

Efficacy Chart >>
  1. Activities of Daily Living (ADL) : 1 result

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