DISEASE SCANNER

Global Incurable Diseases Tracker

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Metabolic Disorder

Glycogen Storage Disease Type I (von Gierke Disease)

HIGH SEVERITY

A rare inherited disorder caused by deficiency of glucose-6-phosphatase enzyme, leading to abnormal accumulation of glycogen in liver and kidneys, severe hypoglycemia, and lactic acidosis.

Global Affected

25.0K

Countries

15

Symptoms

Severe hypoglycemia
Enlarged liver (hepatomegaly)
Growth retardation
Lactic acidosis
High uric acid (gout)
High lipids (hyperlipidemia)
Easy bruising and nosebleeds
Kidney disease

Treatment Options

Frequent feedings (every 2-3 hours)
Uncooked cornstarch (slow glucose release)
Continuous overnight glucose infusion
Liver transplantation (Type Ia)
Allopurinol (for gout)
Lipid-lowering medications
ACE inhibitors (kidney protection)
Granulocyte colony-stimulating factor

Risk Factors

1Autosomal recessive inheritance
2G6PC gene mutation (Type Ia)
3SLC37A4 gene mutation (Type Ib)
4Ashkenazi Jewish ancestry (Type Ib)
5Consanguineous parents

Diagnostic Methods

  • 1Fasting glucose and lactate
  • 2Lipid panel
  • 3Uric acid level
  • 4Liver function tests
  • 5Genetic testing (G6PC, SLC37A4)
  • 6Liver biopsy (enzyme assay)
  • 7Molecular genetic analysis

Prognosis

Good with early diagnosis and proper management. Normal intelligence with treatment. Growth improves with metabolic control. Adult complications include liver adenomas (50-75%), kidney disease, gout, and osteoporosis. Liver transplant curative for Type Ia. Life expectancy improving with better management; many live into adulthood. Metabolic control prevents brain damage from hypoglycemia. Regular monitoring essential for complications.

Prevention

  • Genetic counseling
  • Prenatal diagnosis
  • Early diagnosis and treatment
  • Newborn screening (limited availability)

Research Status

Frequent feedings with uncooked cornstarch to maintain glucose. Liver transplantation potentially curative. Management of complications (gout, lipids, kidney disease). Gene therapy under investigation.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoIndiaChinaSouth KoreaSouth Africa

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1312
  • https://rarediseases.org/rare-diseases/glycogen-storage-disease-type-i
  • https://www.gsd1.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.