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Type II Glycogen Storage Disease (Pompe Disease) Workup

  • Author: Wayne E Anderson, DO, FAHS, FAAN; Chief Editor: George T Griffing, MD  more...
 
Updated: Oct 15, 2014
 

Laboratory Studies

Obtain a creatine kinase in all cases of suspected GSD. Creatine kinase is elevated in Pompe disease.

Because hypoglycemia may be found in some types of GSD, fasting glucose is indicated. Because the liver phosphorylase is not involved (only muscle phosphorylase), hypoglycemia is not an expected finding.

Urine studies are indicated because myoglobinuria may occur in some GSDs.

Hepatic failure occurs in some GSDs. Liver function studies are indicated.

Biochemical assay is required for definitive diagnosis. Assay reveals deficient acid maltase in fibroblasts.

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Imaging Studies

Aneurysms, which represent glycogen storage within the intracranial vasculature, may be found on angiography or magnetic resonance angiography.

Consider echocardiography to assess heart size and amount of left ventricular hypertrophy.

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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 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 return to baseline.
  • If neither level increases, the exercise was not strenuous enough and the test result 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 GSDs have a positive ischemic test result.
  • Failure of ammonia to increase with lactate is evidence of myoadenylate deaminase deficiency.
  • Findings on the ischemic forearm test are normal in Pompe disease.

Electromyelography

  • In 1998, Aminoff reported electromyelographic findings suggestive of a myopathy, although abnormal spontaneous activity may be present.[9]
  • Electrical myotonia without clinical myotonia may be present.
  • Myotonic discharges may be found in the paraspinal muscles.
  • Fibrillation potentials, positive sharp waves, and complex repetitive discharges may be found.
  • Myopathic findings of polyphasic responses, decreased duration of potentials, and decreased amplitude are usually present.

Electrocardiography: ECG demonstrates a pan-lead short PR interval and elevated QRS complexes in the infantile form. A case of Wolff-Parkinson-White syndrome has been reported in association with Pompe disease.

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Procedures

Muscle biopsy assists with the evaluation of muscle weakness.

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Histologic Findings

Muscle biopsy shows vacuolar myopathy. Type I fibers are most often involved. Lysosomal glycogen accumulates are predominant, although the cytoplasm may be involved. Periodic acid-Schiff stain is positive for inclusions.

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Contributor Information and Disclosures
Author

Wayne E Anderson, DO, FAHS, FAAN Assistant Professor of Internal Medicine/Neurology, College of Osteopathic Medicine of the Pacific Western University of Health Sciences; Clinical Faculty in Family Medicine, Touro University College of Osteopathic Medicine; Clinical Instructor, Departments of Neurology and Pain Management, California Pacific Medical Center

Wayne E Anderson, DO, FAHS, FAAN is a member of the following medical societies: California Medical Association, American Headache Society, San Francisco Medical Society, San Francisco Medical Society, International Headache Society, California Neurology Society, San Francisco Neurological Society, American Academy of Neurology, California Medical Association

Disclosure: Received honoraria from Teva for speaking and teaching; Received grant/research funds from Allergan for other; Received honoraria from Insys for speaking and teaching; Received honoraria from DepoMed for speaking and teaching.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

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, International Society for Clinical Densitometry

Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD Professor Emeritus of Medicine, St Louis University School of Medicine

George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, International Society for Clinical Densitometry, Southern Society for Clinical Investigation, American College of Medical Practice Executives, American Association for Physician Leadership, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical and Translational Research, Endocrine Society

Disclosure: Nothing to disclose.

Acknowledgements

Barry J Goldstein, MD, PhD Director, Division of Endocrinology, Diabetes and Metabolic Diseases, Professor, Department of Internal Medicine, Thomas Jefferson University

Barry J Goldstein, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American College of Clinical Endocrinologists, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, and The Endocrine Society

Disclosure: Nothing to disclose.

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