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Glycogen Storage Diseases Types I-VII Follow-up

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

Further Outpatient Care

See the list below:

  • GSD type I
    • After the initial diagnostic hospitalization, conduct further follow-up on an outpatient basis.
    • In infants and young children, follow-up is usually planned bimonthly. Examine the patient regularly for other metabolic disturbances, such as hyperlactatemia, hyperuricemia, and hyperlipidemia, in addition to glycemia. Check arterial blood pressure and renal function regularly.
    • Importantly, monitor for infections in patients with GSD type Ib.
    • In older children, perform liver ultrasonography at least once a year to rule out hepatic adenomas. When hepatic adenomas are found, commonly around the end of the second decade of life, close follow-up is necessary for early detection of possible malignant change.
  • GSD type II
    • Counsel patients with juvenile and adult forms concerning possible complications and risks of respiratory disorders.
    • Provide genetic counseling for prenatal diagnosis in further pregnancies.
  • GSD type III
    • Follow-up examination of glycemia and transaminase levels is indicated.
    • Follow-up with a cardiologist is required.
  • GSD type IV
    • Regular checkup of liver function is indicated.
    • Genetic counseling concerning recurrent risks in future pregnancies is necessary.
  • GSD types V and VII: Instruct patients to avoid strenuous physical activities.

Further Inpatient Care

See the list below:

  • GSD type I: The primary goals are good control of hypoglycemia and other metabolic disturbances, such as hyperlactatemia, hyperuricemia, and hyperlipidemia.
  • GSD type II: Further inpatient care is necessary in instances of respiratory insufficiency.
  • GSD types V and VII: Hospital treatment is necessary during renal insufficiency due to rhabdomyolysis.


See the list below:

  • GSD type I
    • Bacterial infections and cerebral edema are caused by prolonged hypoglycemia and metabolic acidosis. Patients with GSD type Ib are susceptible to bacterial infections, including CNS infections.
    • Long-term complications encompass growth retardation, hepatic adenomas with a high rate of malignant change, xanthomas, gout, and glomerulosclerosis. Long-term complications result from metabolic disturbances, mostly hypoglycemia.
      • Chronic metabolic lactic acidosis and changes in the proximal renal tubule cells can lead to osteopenia and rickets with severe skeletal deformities or bone fractures, particularly of the distal extremities. Such skeletal problems seriously impair the patient's mobility.
      • Elevated uric acid excretion along with segmental glomerular sclerosis gradually causes a decrease in the glomerular function with proteinuria, hematuria, arterial hypertension, and chronic renal failure. Because of incomplete distal tubular acidosis, a number of patients develop hypercalciuria, nephrocalcinosis, and calculosis. In a 2002 report, Mundy and Lee[24] presented the hypothesis that GSD type I and diabetes mellitus share the common mechanism for renal dysfunction. This mechanism may be due to a convergence of their metabolic sequelae in upregulation of flux through the pentose phosphate pathway that yields triose phosphate molecules, which are precursors of the lipid diacylglycerol. Diacylglycerol plays an important role in the intrarenal renin-angiotensin system via the protein kinase C pathway.
      • Long-standing disease may be accompanied by hepatic adenomas prone to malignant alteration.
    • Other uncommon complications include vaso-obstructive pulmonary disease and chronic pancreatitis caused by hyperlipidemia.
    • Acute hypoglycemia may be fatal, and long-term complications include irreversible damage to the CNS.
    • Early death usually caused by acute metabolic complications (eg, hypoglycemia, acidosis), bleeding in the course of various surgical procedures (in all patients with GSD type I), and infections (in patients with GSD type Ib) is now uncommon with improving care and treatment.
    • Late complications, such as renal failure, hypertension, or malignant alteration of hepatic adenomas, may be responsible for mortality in adolescent and adult patients.
  • GSD type II
    • Aspiration pneumonia may be a complication.
    • In the infantile form, progressive cardiorespiratory insufficiency usually causes death by the end of the first year of life.
    • In the juvenile form, death is usually due to respiratory insufficiency, although a few cases have been described that were caused by the rupture of an intracranial aneurysm formed from glycogen accumulation in the smooth muscle cells of the arterial wall.
    • In the adult form, death due to respiratory insufficiency (eg, sleep apnea) may occur many years after the first signs of the disease have appeared.
  • GSD type III: The cirrhosis found in some patients is of a mild degree and does not have a significant impact on the course of the disease. Patients with cardiac involvement (ie, patients with GSD type IIIa), regardless of their age, have a risk of cardiovascular disturbances resulting as a complication of their GSD.
  • GSD type IV
    • In the classic form, progressive liver cirrhosis rapidly leads to hepatic insufficiency so that a fatal outcome may be expected before the end of the second year of life. Rarely, children with GSD type IV may survive longer.
    • Fetal hydrops and intrauterine leg contractures may be found in more severe forms.
    • Liver cirrhosis is not always progressive.
    • Moderately severe variants exist, and affected children survive longer and with predominantly muscular lesions.
  • GSD type VI: Serious complications are unknown.
  • GSD types V and VII: Renal insufficiency caused by rhabdomyolysis may occur.


See the list below:

  • GSD type I: The prognosis is better than in the past provided that all the available dietary and medical measures are implemented.
  • GSD type II
    • The prognosis is poor in the infantile form.
    • The prognosis varies in the juvenile form.
    • The prognosis is relatively good in the adult form.
  • GSD type III
    • The prognosis of GSD type III is better than that of GSD type I.
    • Many patients with GSD type III survive to adulthood.
    • GSD type IIIb is a milder form of the disease, while in GSD type IIIa, the prognosis depends largely on the cardiac involvement.
    • In most patients, the prognosis is good.
    • Liver size and transaminases levels return to baseline.
    • Most patients attain normal height at puberty.
  • GSD type IV: The prognosis is poor. Most children with GSD type IV die by age 2-4 years because of hepatic insufficiency.
  • GSD types V and VII: The prognosis varies.
  • GSD type VI
    • The course is benign.
    • The size of the liver decreases with age and returns to baseline at or around puberty.
    • All the patients attain normal height.

Patient Education

See the list below:

  • GSD type I
    • First, instruct parents, and later adult patients, concerning the measures required to control hypoglycemia and other metabolic abnormalities; such measures include proper care and nutrition.
    • Explain the important role played by continuous overnight feeding by means of a nasogastric tube. Teach parents to place the tube by themselves and control the entire feeding process.
Contributor Information and Disclosures

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

Disclosure: Nothing to disclose.


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; .


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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