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Genetics of Glycogen-Storage Disease Type IV Treatment & Management

  • Author: Lynne Ierardi-Curto, MD, PhD; Chief Editor: Maria Descartes, MD  more...
 
Updated: Jan 08, 2016
 

Medical Care

See Consultations for treatment options in glycogen-storage disease type IV (GSD IV).

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Surgical Care

In patients with classic glycogen-storage disease type IV, liver transplantation is the most effective treatment.[10, 11, 12] Practice guidelines for the evaluation of the patient for liver transplantation have been established by the American Association for the Study of Liver Diseases.[13]

Immediate complications of liver transplantation include postoperative complications and organ rejection. Because glycogen-storage disease type IV is a multisystem disorder, the long-term success of liver transplantation and its effect on the disease progression in other organs is unclear.

Although several patients have reportedly experienced decreased progression and systemic regression after hepatic allografting, presumably due to systemic microchimerism, some patients develop progressive accumulation of abnormal glycogen in other organs after transplantation, ultimately leading to death.

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Consultations

Patients with liver involvement require a pediatric gastroenterologist for initial evaluation and long-term management of liver dysfunction and cirrhosis. The severity of liver dysfunction and complications of portal hypertension determine medical management.

A patient who presents with clinical symptoms of neuromuscular involvement requires a pediatric neurologist for initial evaluation and management.

A pediatric cardiologist is recommended for initial evaluation and medical management of the few patients who present with symptoms of cardiac compromise.

Refer a patient with suspected glycogen-storage disease type IV to a metabolic or biochemical genetics specialist for diagnostic evaluation.

Refer a patient with liver dysfunction to a dietitian experienced with the nutritional support of progressive hepatic failure.

Refer the family of an affected child to a medical geneticist or genetic counselor to review the inheritance of glycogen-storage disease type IV and to discuss prenatal diagnostic testing. Because inheritance is autosomal recessive, parents have a 25% risk of an affected offspring with each pregnancy.

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Diet

If the patient has liver disease, dietary management is necessary to provide adequate nutrient intake to maintain normoglycemia and to improve liver function.

In patients with classic symptoms who develop progressive liver cirrhosis that necessitates liver transplantation, proper dietary intervention has improved muscle strength and allowed additional time for growth before surgery.

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Activity

Do not restrict activity unless the patient experiences acute symptoms of liver failure and complications of cirrhosis.

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Contributor Information and Disclosures
Author

Lynne Ierardi-Curto, MD, PhD Attending Physician, Division of Metabolism, Children's Hospital of Philadelphia

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Edward Kaye, MD Vice President of Clinical Research, Genzyme Corporation

Edward Kaye, MD is a member of the following medical societies: American Academy of Neurology, Society for Inherited Metabolic Disorders, American Society of Gene and Cell Therapy, American Society of Human Genetics, Child Neurology Society

Disclosure: Received salary from Genzyme Corporation for management position.

References
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Liver section from a patient with glycogen-storage disease type IV (GSD IV) stained with hematoxylin and eosin. Characteristic findings include distorted hepatic architecture with diffuse interstitial fibrosis and wide fibrous septa surrounding micronodular areas of parenchyma. Hepatocytes are typically enlarged 2-fold to 3-fold, with faintly stained basophilic cytoplasmic inclusions.
Liver section from a patient with glycogen-storage disease type IV (GSD IV) stained with periodic acid-Schiff (PAS) after diastase treatment. Coarsely clumped material cytoplasmic material representing the accumulated abnormal glycogen is resistant to diastase treatment and is readily stained with PAS.
 
 
 
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