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

Glycogen-Storage Disease Type VII: Differential Diagnoses & Workup

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

Differential Diagnoses

Glycogen-Storage Disease Type V

Workup

Laboratory Studies

  • Serum creatine kinase (CK) values are usually increased in patients with Tarui disease (glycogen-storage disease type VII).
  • Lactic acid does not increase following exercise.
  • Bilirubin levels may be elevated.
  • Reticulocyte count and reticulocyte distribution width (RDW) may be increased.
  • Urinalysis may reveal myoglobinuria, especially after exercise.

Imaging Studies

  • Brain imaging scans in patients with the infantile-onset subtype may show cortical atrophy and ventricular dilatation.
  • Phosphorus 31-nuclear magnetic resonance spectroscopy (31P-NMR S) of calf muscle using a 4.7 Tesla MRI may be useful in making this diagnosis. During exercise, glycolytic intermediates accumulate as phosphorylated monoesters that are pathognomonic of Tarui disease. This study also shows the absence of lactic acid production.

Other Tests

  • Electromyography (EMG) may reveal small-motor potentials of short duration consistent with myopathic changes.
  • Echocardiography may reveal valvular thickening, and ECG may reveal an arrhythmia.
  • The ischemic forearm test is an important tool for the diagnosis of muscle disorders. The test examines the metabolic pathways that provide energy for muscle function during anaerobic exercise. 
    • First, a blood pressure cuff is placed on the patient's arm and is inflated above systolic pressure. 
    • The patient is then instructed to repetitively grasp an object (once or twice per second) for 2-3 minutes. 
    • Blood samples for creatine kinase, ammonia, and lactate and urine samples for myoglobin analysis are immediately obtained before and 5 minutes, 10 minutes, and 20 minutes after inflating the cuff. 
    • Healthy patients have an increase in lactate levels of at least 5-10 mg/dL and an increase in ammonia levels of at least 100 mcg/dL, with return to baseline. If neither level increases, the exercise was not strenuous enough, and the test results are not valid. 
    • Increased lactate at rest (before exercise) is evidence of mitochondrial myopathy.
    • Failure of ammonia to increase with lactate is evidence of myoadenylate deaminase deficiency. The failure of lactate to increase with ammonia is evidence of a glycogen-storage disease that results in blockage of a carbohydrate metabolic pathway. 
    • Positive ischemic forearm test results may occur in patients with Tarui disease, Cori disease (glycogen-storage disease type III), and McArdle disease (glycogen-storage disease type V).
  • Demonstration of decreased phosphofructokinase (PFK) enzyme activity in muscle tissue by biochemical assay is considered definitive diagnosis of Tarui disease.

Procedures

  • Muscle biopsy is necessary for definitive diagnosis.

Histologic Findings

  • Glycogen accumulates between myofibrils under the sarcolemma, as in McArdle disease. Muscle glycogen content typically is greater than 1.5 g per 100 g wet muscle weight.
  • An abnormal polysaccharide, unique to Tarui disease, may also be found, especially in older patients. This polysaccharide is periodic acid-Schiff (PAS) positive but is not digested by diastase.
  • Nonspecific myopathic changes may also be observed.
  • In infantile-onset Tarui disease, little histological evidence of glycogen accumulation may be evident, but measured glycogen is typically greater than twice the normal amount.

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
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References

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  2. Toscano A, Musumeci O. Tarui disease and distal glycogenoses: clinical and genetic update. Acta Myol. Oct 2007;26(2):105-7. [Medline].

  3. Nakajima H, Raben N, Hamaguchi T, Yamasaki T. Phosphofructokinase deficiency; past, present and future. Curr Mol Med. Mar 2002;2(2):197-212. [Medline].

  4. Haller RG, Lewis SF. Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. N Engl J Med. Feb 7 1991;324(6):364-9. [Medline].

  5. Haller RG, Vissing J. No spontaneous second wind in muscle phosphofructokinase deficiency. Neurology. Jan 13 2004;62(1):82-6. [Medline].

  6. Finsterer J, Stollberger C. Progressive mitral valve thickening and progressive muscle cramps as manifestations of glycogenosis VII (Tarui's Disease). Cardiology. 2008;110(4):238-40. [Medline].

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  16. Exantus J, Ranchin B, Dubourg L, et al. Acute renal failure in a patient with phosphofructokinase deficiency. Pediatr Nephrol. Jan 2004;19(1):111-3. [Medline].

  17. Finsterer J, Stollberger C, Kopsa W. Neurologic and cardiac progression of glycogenosis type VII over aneight-year period. South Med J. Dec 2002;95(12):1436-40. [Medline].

  18. Guibaud P, Carrier H, Mathieu M, et al. [Familial congenital muscular dystrophy caused by phosphofructokinase deficiency]. Arch Fr Pediatr. Dec 1978;35(10):1105-15. [Medline].

  19. Hays AP, Hallett M, Delfs J, et al. Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. Neurology. Sep 1981;31(9):1077-86. [Medline].

  20. Mineo I, Kono N, Hara N, et al. Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII. N Engl J Med. Jul 9 1987;317(2):75-80. [Medline].

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Further Reading

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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

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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.

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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