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Glycogen Storage Diseases Types I-VII Medication

  • Author: Ljubomir Stojanov, MD, PhD; Chief Editor: William D James, MD  more...
 
Updated: Jul 23, 2014
 

Medication Summary

No specific drug treatment is recommended for GSD type Ia. Appropriately treat concurrent infections with antibiotics. Allopurinol (Zyloprim), a xanthine oxidase inhibitor, therapy can reduce uric acid levels in the blood and prevent occurrence of gout and kidney stones in adult life.

Hyperlipidemia can be reduced by lipid-lowering drugs (eg, 3-hydroxy-3-methylglutaryl coenzyme A [HMG-CoA] reductase inhibitors, fibric acid derivatives). HMG-CoA reductase inhibitors of cholesterol biosynthesis in the liver are known as statins. Because of a high risk of myositis, the drugs may be recommended only after age 12 years. A new inhibitor of cholesterol absorption, ezetimibe, in a dose of 10 mg/d, can reduce low-density lipoprotein (LDL) cholesterol levels and has small triglyceride-lowering effects.

In patients with renal lesions, microalbuminuria can be reduced with angiotensin-converting enzyme (ACE) inhibitor therapy. In addition to their antihypertensive effects, ACE inhibitors are renoprotective and reduce albuminuria. Nephrocalcinosis and renal calculi can be prevented with citrate therapy.

Severe infection and chronic inflammatory bowel disease in patients with GSD type Ib should be treated with antibiotics and granulocyte-macrophage colony-stimulating factors (Neupogen).

Cardioglycosides and diuretics are prescribed for cardiovascular insufficiency in patients with GSD type II. Respiratory bacterial infections (aspiration pneumonia) in patients with GSD type II are treated with antibiotics. Enzyme replacement therapy has been approved as an orphan drug by the FDA.

No effective treatment is available for GSD types III, IV, V, and VII. Some patients with GSD type V may benefit from creatine supplement.

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Iron salts

Class Summary

These agents correct iron deficiency.

Ferrous sulfate (Feosol, Feratab, Fer-Iron)

 

Used to control anemia in patients with GSD types Ia or Ib.

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Uricosuric agents

Class Summary

These agents reduce production of uric acid without disrupting the biosynthesis of vital purines.

Allopurinol (Zyloprim)

 

Used to control elevated serum uric acid levels in patients with GSD types Ia or Ib.

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Growth factors

Class Summary

These agents activate and stimulate production, maturation, migration, and cytotoxicity of neutrophils.

Filgrastim (Neupogen)

 

Granulocyte colony-stimulating factor used in patients with GSD type Ib with severe infections, in those with pseudocolitis, and in patients as a preventive measure.

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Glycogenolytic agents

Class Summary

These agents elevate blood glucose levels.

Glucagon (GlucaGen)

 

Used to treat GSD types V and VII. Pancreatic alpha cells of the islets of Langerhans produce glucagon, a polypeptide hormone. Exerts opposite effects of insulin on blood glucose. Glucagon elevates blood glucose levels by inhibiting glycogen synthesis and by enhancing formation of glucose from noncarbohydrate sources such as proteins and fats (gluconeogenesis). Increases hydrolysis of glycogen to glucose (glycogenolysis) in liver in addition to accelerating hepatic glycogenolysis and lipolysis in adipose tissue. Glucagon also increases force of contraction in the heart and has a relaxant effect on the GI tract.

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Angiotensin-converting enzyme (ACE) inhibitors

Class Summary

Reduce microalbuminuria, have antihypertensive effects, and are renoprotective.

Lisinopril (Prinivil, Zestril)

 

Prevents conversion of angiotensin I to angiotensin II and lowers aldosterone secretion; in some patients may cause cough and angioedema.

Ramipril (Altace)

 

Prevents conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, resulting in lower aldosterone secretion.

Captopril (Capoten)

 

Prevents conversion of angiotensin I to angiotensin II, resulting in lower aldosterone secretion

Enalapril (Vasotec)

 

Competitive inhibitor of ACE. Reduces angiotensin II levels, decreasing aldosterone secretion.

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Enzyme replacements

Class Summary

Recombinant human enzyme glucosidase alfa has recently been designated an orphan drug for GSD type II (Pompe disease).

Alglucosidase alfa (Myozyme)

 

Recombinant human enzyme alpha-glucosidase (rhGAA) indicated as an orphan drug for treatment of Pompe disease. Replaces rhGAA, which is deficient or lacking in persons with Pompe disease. Alpha-glucosidase is essential for normal muscle development and function. Binds to mannose-6-phosphate receptors and then is transported into lysosomes; undergoes proteolytic cleavage that results in increased enzymatic activity and ability to cleave glycogen. Improves infant survival without requiring invasive ventilatory support compared with historical controls without treatment.

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Contributor Information and Disclosures
Author

Ljubomir Stojanov, MD, PhD Lecturer in Metabolism and Clinical Genetics, University of Belgrade School of Medicine, Serbia

Disclosure: Nothing to disclose.

Coauthor(s)

Djordjije Karadaglic, MD, DSc Professor, School of Medicine, University of Podgorica, Podgorica, Montenegro

Djordjije Karadaglic, MD, DSc is a member of the following medical societies: American Academy of Dermatology, European Academy of Dermatology and Venereology, Serbian Association of DermatoVenereologists

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Jeffrey Meffert, MD Associate Clinical Professor of Dermatology, University of Texas School of Medicine at San Antonio

Jeffrey Meffert, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Jacek C Szepietowski, MD, PhD Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland

Disclosure: Received consulting fee from Orfagen for consulting; Received consulting fee from Maruho for consulting; Received consulting fee from Astellas for consulting; Received consulting fee from Abbott for consulting; Received consulting fee from Leo Pharma for consulting; Received consulting fee from Biogenoma for consulting; Received honoraria from Janssen for speaking and teaching; Received honoraria from Medac for speaking and teaching; Received consulting fee from Dignity Sciences for consulting; .

Acknowledgements

Milos D Pavlovic, MD, PhD Head of Immunodermatology, Professor, Department of Dermatology and Venereology, Military Medical Academy, Belgrade, Serbia

Milos D Pavlovic, MD, PhD is a member of the following medical societies: European Academy of Dermatology and Venereology

Disclosure: Nothing to disclose.

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An infant with glycogen storage disease type Ia. Note the typical facial aspect resembling a doll's face.
Glycogen storage disease type I. Abdominal sonogram showing large nodules in the liver.
A child with glycogen storage disease type Ia.
Glycogen storage disease type II. Photomicrograph of the liver. Note the intensively stained vacuoles in the hepatocytes (periodic acid-Schiff, original magnification X 27).
Glycogen storage disease type II. Photomicrograph of the liver. Note the regular reticular net and hepatocytes vacuolization (Gordon-Sweet stain, original magnification X 25).
 
 
 
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