Genetics of Glycogen-Storage Disease Type VII Clinical Presentation

  • Author: Lynne Ierardi-Curto, MD, PhD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Sep 19, 2011
 

History

The usual presenting symptom in Tarui disease (glycogen-storage disease type VII) is exertional fatigue. Most patients exhibit exertional fatigue in childhood and may experience nausea and vomiting, muscle cramps, hyperuricemia, myoglobinuria, or even frank anuria following high-intensity exercise. This constellation of signs and symptoms is characteristic not only of Tarui disease but a group of clinically and etiologically diverse conditions termed metabolic myopathies. The symptoms of exertional fatigue in patients with Tarui disease are typically more severe than those observed in McArdle disease (glycogen storage disease type V), the most common form of metabolic myopathy.

  • Hemolysis due to partial erythrocyte phosphofructokinase (PFK) deficiency may cause jaundice.
  • Hyperuricemia following exercise is due to accelerated degradation of muscle purine nucleotides, which serve as the substrates for the synthesis of uric acid. Manifestations of hyperuricemia may include arthritis.
  • Blindness and psychomotor retardation may be the presenting symptoms of the infantile-onset type.
  • Cardiac dysfunction, arrhythmia and anginal chest pain may be symptoms of the late-onset type.[11]
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Physical

  • Classic and late-onset
    • Muscle weakness, most pronounced following exercise
    • Fixed limb weakness
    • Muscle contractures
    • Jaundice
    • Joint pain
  • Fatal infantile variant
    • Muscle weakness
    • Cataracts
    • Joint contractures
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Causes

The cause of Tarui disease is genetic.

  • Missense, splicing defects, and frameshift mutations in the gene encoding the M subunit of PFK have been discovered in patients with Tarui disease. The M subunit gene, mapped to band 12p13, contains 24 exons and is approximately 30 kilobase (kb) in length.
  • Ashkenazi Jews share 2 common mutations in the gene. A splicing defect caused by the G-to-A base change at the first nucleotide in exon 5 accounts for 68% of mutant Ashkenazi alleles, and a deletion in exon 22 accounts for about 27% of mutant Ashkenazi alleles.[12]
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Contributor Information and Disclosures
Author

Lynne Ierardi-Curto, MD, PhD  Medical Geneticist, Laboratory Corporation of America (LabCorp), Northeast Division, Genetics Services

Disclosure: Nothing to disclose.

Specialty Editor Board

Edward Kaye, MD  Vice President of Clinical Research, Genzyme Corporation

Edward Kaye, MD is a member of the following medical societies: American Academy of Neurology, American Society of Gene Therapy, American Society of Human Genetics, Child Neurology Society, and Society for Inherited Metabolic Disorders

Disclosure: Genzyme Corporation Salary Management position

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Hagop Youssoufian, MD, MSc  Vice President of Clinical Research, ImClone Systems Incorporated

Hagop Youssoufian, MD, MSc is a member of the following medical societies: American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous authors Cydney L Fenton, MD, FAAP, and Melissa Wasserstein, MD, to the development and writing of this article.

References

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