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Glycogen Storage Disease, Type VII: Differential Diagnoses & Workup

Author: Wayne E Anderson, DO, Assistant Professor of Internal Medicine/Neurology, Western University of Health Sciences; Assistant Professor of Family Medicine, Touro University College of Osteopathic Medicine; Consulting Staff in Pain Management, Department of Neurology, California Pacific Medical Center
Contributor Information and Disclosures

Updated: Sep 21, 2007

Differential Diagnoses

Glucose Intolerance
Glycogen Storage Disease, Type Ib
Glycogen Storage Disease, Type V
Hepatic Carcinoma, Primary
Hepatic Failure
Hypoglycemia

Workup

Laboratory Studies

  • Obtain a creatine kinase level in all cases of suspected glycogen storage disease (GSD).  In patients with Tarui disease, creatine kinase levels are elevated.
  • Because hypoglycemia may be found in some types of GSD, fasting glucose testing is indicated. Hypoglycemia is of concern and may lead to hypoglycemic seizures.
  • Urine studies are indicated because myoglobinuria may occur in some patients with GSDs. In patients with Tarui disease, myoglobinuria may be present after exercise.
  • Hepatic failure occurs in some patients with GSDs. Liver function studies are indicated.
  • Biochemical assay reveals normal phosphorylase activity. Phosphofructokinase is absent on histochemistry assay.
  • Some specific features that may help differentiate Tarui disease from McArdle disease include the following:

    • Compensated hemolytic anemia in GSD type VII
    • Hyperuricemia that is worsened by exercise in Tarui disease

Other Tests

  • Ischemic forearm test
    • The ischemic forearm test is an important tool for diagnosis of muscle disorders. The basic premise is an analysis of the normal chemical reactions and products of muscle activity. Obtain consent before the test.
    • Instruct the patient to rest. Position a loosened blood pressure cuff on the arm, and place a venous line for blood samples in the antecubital vein.
    • Obtain blood samples for the following tests: creatine kinase, ammonia, and lactate. Repeat in 5-10 minutes.
    • Obtain a urine sample for myoglobin analysis.
    • Immediately inflate the blood pressure cuff above systolic blood pressure, and have the patient repetitively grasp an object, such as a dynamometer. Instruct the patient to grasp the object firmly, once or twice per second. Encourage the patient for 2-3 minutes, at which time the patient may no longer be able to participate. Immediately release and remove the blood pressure cuff.
    • Obtain blood samples for creatine kinase, ammonia, and lactate immediately and at 5, 10, and 20 minutes.
    • Collect a final urine sample for myoglobin analysis.
  • Interpretation of ischemic forearm test results
    • With exercise, carbohydrate metabolic pathways yield lactate from pyruvate. Lack of lactate production during exercise is evidence of a pathway disturbance, and an enzyme deficiency is suggested. In such cases, muscle biopsy with biochemical assay is indicated.
    • Healthy patients demonstrate an increase in lactate of at least 5-10 mg/dL and ammonia of at least 100 mcg/dL. Levels will return to baseline.
    • If neither level increases, the exercise was not strenuous enough and the test is not valid.
    • Increased lactate at rest (before exercise) is evidence of mitochondrial myopathy.
    • Failure of lactate to increase with ammonia is evidence of a GSD resulting in a block in carbohydrate metabolic pathways.
    • Not all patients with GSDs have positive ischemic test results.
    • Failure of ammonia to increase with lactate is evidence of myoadenylate deaminase deficiency.
    • In patients with Tarui disease, ischemic forearm test results are positive.
  • Electromyography
    • Findings on electromyography testing in patients with phosphofructokinase deficiency may be normal.
    • Findings from electromyography of resting muscle are normal.
    • Electrical activity is absent during contracture.
    • Repetitive nerve stimulation at low frequency (2 Hz) does not demonstrate an abnormal response, while repetitive stimulation at high frequency (15 Hz) may produce a decrement with contracture formation.
    • Single-fiber electromyography may reveal increased jitter.

Procedures

Muscle biopsy is necessary for definitive diagnosis.

Histologic Findings

Findings from muscle biopsy may reveal subsarcolemmal vacuoles. Red blood cell examination indicates moderate hemolytic anemia. Phosphorus-31 magnetic resonance spectroscopy may help establish diagnosis. Abnormal polysaccharide, which is resistant to diastase digestion, is present in muscle fibers but is not seen in patients with McArdle disease (GSD, type V).

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
Multimedia: Glycogen Storage Disease, Type VII
References
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References

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Further Reading

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Keywords

Tarui disease, Tarui’s disease, Tauri disease, Tauri’s disease, GSD type VII, muscle phosphofructokinase deficiency, enzyme defect, glycogen storage disease, GSD, GSD type 0, glycogen synthase deficiency, GSD type Ia, glucose-6-phosphatase deficiency, G-6-P deficiency, von Gierke disease, GSD type II, acid maltase deficiency, Pompe disease, GSD type III, debranching enzyme deficiency, Forbes-Cori disease, GSD type IV, GSD type V, myophosphorylase deficiency, McArdle disease, transglucosidase deficiency, Andersen disease, amylopectinosis, GSD type VI, phosphorylase deficiency, Hers disease

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Contributor Information and Disclosures

Author

Wayne E Anderson, DO, Assistant Professor of Internal Medicine/Neurology, Western University of Health Sciences; Assistant Professor of Family Medicine, Touro University College of Osteopathic Medicine; Consulting Staff in Pain Management, Department of Neurology, California Pacific Medical Center
Wayne E Anderson, DO is a member of the following medical societies: American Academy of Neurology, American Academy of Pain Medicine, American Medical Association, American Society of Law Medicine and Ethics, California Medical Association, and San Francisco Medical Society
Disclosure: Cephalon Honoraria Speaking and teaching; Janssen Honoraria Speaking and teaching; Ligand Honoraria Consulting; Alpharma Honoraria Speaking and teaching

Medical Editor

David M Klachko, MBBCh, Professor Emeritus, Department of Internal Medicine, Division of Endocrinology, Diabetes and Metabolism, University of Missouri
David M Klachko, MBBCh is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, American Federation for Medical Research, Endocrine Society, Missouri State Medical Association, and Sigma Xi
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Kent Wehmeier, MD, Professor, Department of Internal Medicine, Division of Endocrinology, Diabetes, and Metabolism, St Louis University School of Medicine
Kent Wehmeier, MD is a member of the following medical societies: American Society of Hypertension, Endocrine Society, and International Society for Clinical Densitometry
Disclosure: Nothing to disclose.

CME Editor

Mark Cooper, MD, Head, Vascular Division, Baker Medical Research Institute; Professor of Medicine, Monash University
Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD, Professor of Medicine, Director of General Internal Medicine, St Louis University
George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physician Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical Research, and Endocrine Society
Disclosure: Nothing to disclose.

 
 
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