Glycogen Storage Diseases Types I-VII Treatment & Management

  • Author: Ljubomir Stojanov, MD, PhD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jan 25, 2012
 

Medical Care

  • GSD type I: Most children with GSD type I are admitted to the hospital to make a final diagnosis, to manage hepatomegaly or hypoglycemia, and to perform percutaneous needle biopsy or open surgical biopsy of the liver (admission to the hospital is required for these procedures). At times, surgical abscess incision is necessary in children with GSD type Ib. Frequent infections in patients with GSD type Ib require intravenous therapy to correct hypoglycemia and intensive intravenous antibiotic treatment to control infections.
    • Because no specific treatment is available, symptomatic therapy is very important.
    • In the past, treatment had been focused on correcting hypoglycemia and other metabolic disturbances using raw cornstarch. At present, a novel form of physically modified cornstarch (WMHM20, Glycologic Ltd; Glasgow, Scotland) is in clinical practice. It differs from classic cornstarch in regard to amylopectin content. Evidence suggests better control of hypoglycemia in persons with GSD types I and III and an extended duration of euglycemia and better metabolic control for patients.[19]
    • Additionally, for patients with GSD type I, the future may bring adeno-associated virus vector – mediated gene experimental therapy, which may result in curative therapy, as is possible in patients with GSD type II.[20]
  • GSD type II
    • At present, effective specific treatment can be achieved using recombinant DNA alglucosidase alfa (Myozyme), which degrades lysosomal glycogen. On the basis of clinical trials, including pediatric patients aged 1 month to 3.5 years at time of first infusion, it can be concluded that alglucosidase alfa is efficient in improving ventilator-free survival in patients with infantile-onset Pompe disease. However, conclusions regarding its efficacy in patients with other forms of Pompe disease require additional investigation.
    • Alglucosidase alfa may be administered by intravenous infusion only. The recommended dosis is 20 mg/kg as a 4-hour infusion every 2 weeks. The initial rate of infusion should be 1 mg/kg/h, which may then be increased by 2 mg/kg/h every 30 minutes to a maximum rate of 7 mg/kg/h using an infusion pump.
    • Contraindications are not known. However, some risk of different hypersensitivity reactions exist for treated patients, and some of these reactions are life-threatening anaphylaxis, including anaphylactic shock.
    • Preliminary results of alglucosidase alfa treatment have shown prolonged survival for patients with cardiomyopathy and those with motor deficit.
    • Gene therapy is an encouraging mode of treatment but is not yet available. However, in 2002, Martin-Touaux et al[21] reported using a GSD type II mouse model, a new mode of gene therapy using muscle as a secretary organ, and an adenovirus vector encoding AdGAA. They injected adenovirus vector encoding AdGAA in the gastrocnemius of neonates and detected a strong expression of GAA in the injected muscle, secretion into plasma, and uptake by the peripheral skeletal muscle and the heart. Furthermore, the glycogen content in these tissues decreased and the destruction foci usually present in untreated mice and visible by electron microscopy disappeared.
  • GSD type III: No specific therapy exists. The treatment is somewhat simpler than that of GSD type I. When hypoglycemia is a problem, the patient should consume frequent high-protein meals to preserve gluconeogenesis. Hydrolyzable cornstarch should be slowly administered between meals and overnight as well; this therapy is particularly important to prevent overnight hypoglycemia. Proof that frequent protein meals and overnight nasogastric infusion of proteins can prevent progressive myopathy is not conclusive.
  • GSD types IV and VI: No medication is necessary.
  • GSD types V and VII: No specific therapy is available.
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Surgical Care

  • GSD type I: In view of short- and long-term complications, orthotopic liver transplantation is a last resort when other conservative measures have failed or if hepatic adenomas become malignant. A large liver adenoma may be successfully treated with ethanol injection under ultrasonographic or CT control. Kidney transplantation has been performed in cases of end-stage renal insufficiency. If a surgical procedure is to be performed, a bleeding test must be performed and any metabolic disturbances must be corrected. In patients with prolonged bleeding times, treatment with 1-deamino-8-D-arginine vasopressin (DDAVP) together with an intravenous 10% glucose infusion 1-2 days before and again during the procedure can be useful. Avoid administering lactated Ringer solution alone because it contains lactate but does not contain glucose.
  • GSD type IV: In case of progressive liver cirrhosis, liver transplantation may be performed. However, because of the systemic nature of the disease, the long-term favorable effects of the procedure are not feasible.
  • GSD type VI: Surgical care is not necessary.
  • GSD type VII: Surgical care should be performed if necessary for other reasons, such as muscle biopsy and hemodialysis.
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Consultations

  • The following specialists may be consulted for patients with GSD type II:
    • Intensive care therapists to perform assisted ventilation during respiratory insufficiency
    • Pediatric cardiologist to treat cardiovascular insufficiency
    • Clinical geneticist to counsel families
    • Neurologist for EMG investigations
  • A pediatric cardiologist can be consulted for patients with GSD type III.
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Diet

  • GSD type I: The primary goal of treatment is to correct hypoglycemia and maintain a normoglycemic state. The normoglycemic state can be achieved with overnight nasogastric infusion of glucose, its polymers and elemental enteral formula, parenteral nutrition, or peroral administration of raw cornstarch.
    • In young infants, the best results are obtained with nocturnal nasogastric tube feeding with elemental enteral formula, glucose, or glucose polymers. One third of the total caloric need should be provided by nasogastric drip feeding. An infant should receive 8-10 mg/kg/min of glucose, and an older child should receive 5-7 mg/kg/min of glucose. The infusion should be administered with a special pump. In the daytime, patients should consume frequent meals that contain higher quantities of carbohydrates (eg, carbohydrates 65-70%, proteins 10-15%, fat 20-25%). The first meal should be consumed no longer than 15-30 minutes after stopping the nasogastric infusion.
    • In older infants and children, raw cornstarch is administered instead of continuous overnight feeding by means of a nasogastric tube. Glucose molecules are continuously released by hydrolysis of raw cornstarch in the digestive tract over 4 hours following its intake. The cornstarch is administered between meals in a dose of 1.6 g/kg every 4 hours in children younger than 2 years and in a dose of 1.75-2.5 g/kg every 6 hours in children older than 2 years. The cornstarch is usually dissolved in lukewarm water in a weight-to-volume ratio of 1:2. In children with diminished pancreatic function, the treatment is not effective. In young adult patients, a single dose of uncooked cornstarch given at bedtime can be enough to maintain overnight blood glucose concentration in the reference range.
    • The intake of fructose and galactose should be restricted because it has been shown that they cannot be converted to glucose but that they do increase lactate production.
    • Limited intake of lipids is advisable for the existing hyperlipidemia.
  • GSD type II
    • A specific diet is not available. However, because of difficulties in swallowing and risks of aspiration, many children require feeding by means of a nasogastric or gastrostomy tube.
    • In 2006, Roe and Mochel[22] reported a clinical benefit with anaplerotic diet therapy in an adult-onset GSD type II patient with skeletal muscle weakness. Because patients with adult-onset disease have cataplerotic events as a result of acid maltase deficiency (from muscle to liver), triheptanoin may have a beneficial effect. Triheptanoin is a medium-odd-chain triglyceride and serves as an anaplerotic substrate for the citric acid cycle in all tissue. Heptanoate and C5-ketone bodies derived from partial oxidation of triheptanoin (C7 triglyceride) in the liver are precursors of anaplerotic propionyl-coenzyme A in peripheral tissues, including skeletal muscle, where they increase ATP production, resulting in augmentation of mass and strength of striated muscle. Besides the anaplerotic effect, triheptanoin is a gluconeogenic compound in the liver and kidney cortex.
    • According to data from Kinman et al[23] from 2006, triheptanoin may be safely administered intravenously for the treatment of decompensated, energy-depleted patients.
  • GSD type III: A specific diet is not available. In addition, no need exists for any dietary restrictions as in patients with GSD type I. Similarly to GSD type I, patients with hypoglycemia may benefit from frequent and nocturnal tube feeding, as well as cornstarch and a high-protein diet.
  • GSD type IV: A specific diet is not available. Hypoglycemia should be corrected. A balanced diet favorably influences liver disease.
  • GSD type V: Glucose and fructose administered by mouth increases the patient's tolerance of physical exertion. A high-protein diet may also increase the patient's tolerance of physical exertion.
  • GSD type VI: A specialized diet is not necessary unless hypoglycemia with ketosis is a problem. Frequent carbohydrate meals are then recommended.
  • GSD type VII: Patients should be instructed to avoid carbohydrate-rich foods.
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Activity

  • GSD type I: Physical activity is not restricted. Patients or their parents should be informed about the risks of aggressive and dangerous sports in view of the bleeding tendency and a possibility of a traumatic injury to the liver.
  • GSD type II: In the juvenile and adult forms, physical activity is not restricted. Activity is limited by the capacity of the patient's musculature.
  • GSD types III and VI: Physical activity is not restricted.
  • GSD types V and VII: Patients should be instructed to avoid physical activity.
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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, and Serbian Association of DermatoVenereologists

Disclosure: Nothing to disclose.

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.

Specialty Editor Board

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: Stiefel GSK Company Salary Employment; Orfagen Consulting fee Consulting; Maruho Consulting fee Consulting; Astellas Consulting fee Consulting; Abbott Consulting fee Consulting; Leo Pharma Consulting fee Consulting

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

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

Disclosure: Nothing to disclose.

Jeffrey Meffert, MD  Assistant 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, and Texas Dermatological Society

Disclosure: Nothing to disclose.

Glen H Crawford, MD  Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital

Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, to the development and writing of this article.

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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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