eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases

Glycogen-Storage Disease Type VII: Follow-up

Author: Lynne Ierardi-Curto, MD, PhD, Medical Geneticist, Laboratory Corporation of America (LabCorp), Northeast Division, Genetics Services
Contributor Information and Disclosures

Updated: Feb 5, 2009

Follow-up

Further Outpatient Care

  • 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 as well.
  • If the patient has hyperbilirubinemia, perform ultrasonography to evaluate the presence of gallstones.

Deterrence/Prevention

  • Prenatal detection is possible in families with identifiable mutations.

Complications

  • Renal failure may complicate myoglobinuria.
  • Gallstones may complicate hyperbilirubinemia.

Prognosis

  • The small number of patients with the infantile variant have all died during early childhood.
  • The classic and late-onset types are relatively mild disorders with minor lifestyle restrictions.

Patient Education

  • As with all genetic diseases, genetic counseling is appropriate.

Miscellaneous

Medicolegal Pitfalls

  • Failure to limit exercise in a patient with myoglobinuria may lead to renal failure.
 
Acknowledgments

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.



More on Glycogen-Storage Disease Type VII

Overview: Glycogen-Storage Disease Type VII
Differential Diagnoses & Workup: Glycogen-Storage Disease Type VII
Treatment & Medication: Glycogen-Storage Disease Type VII
Follow-up: Glycogen-Storage Disease Type VII
References

References

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Further Reading

Keywords

glycogen-storage disease type VII, Tarui disease, Tarui's disease, muscle phosphofructokinase deficiency, phosphofructokinase deficiency, PFK, GSD type VII, glycogen storage disease type VII, type 7 glycogenosis, muscle weakness, psychomotor retardation, out of wind phenomenon, myoglobinuria, hemolysis, jaundice, gallstones, cholecystectomy, cardiomyopathy, respiratory failure, McArdle disease, gout, arthritis, blindness

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.

Medical Editor

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

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

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.

CME Editor

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, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, 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.

 
 
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