Glycogen Storage Diseases Types I-VII Medication
- Author: Ljubomir Stojanov, MD, PhD; Chief Editor: William D James, MD more...
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.
These agents correct iron deficiency.
Used to control anemia in patients with GSD types Ia or Ib.
These agents reduce production of uric acid without disrupting the biosynthesis of vital purines.
Used to control elevated serum uric acid levels in patients with GSD types Ia or Ib.
These agents activate and stimulate production, maturation, migration, and cytotoxicity of neutrophils.
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.
These agents elevate blood glucose levels.
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.
Angiotensin-converting enzyme (ACE) inhibitors
Reduce microalbuminuria, have antihypertensive effects, and are renoprotective.
Prevents conversion of angiotensin I to angiotensin II and lowers aldosterone secretion; in some patients may cause cough and angioedema.
Prevents conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, resulting in lower aldosterone secretion.
Prevents conversion of angiotensin I to angiotensin II, resulting in lower aldosterone secretion
Competitive inhibitor of ACE. Reduces angiotensin II levels, decreasing aldosterone secretion.
Recombinant human enzyme glucosidase alfa has recently been designated an orphan drug for GSD type II (Pompe disease).
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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