DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Glycogen Storage Disease Type I (Von Gierke)

HIGH SEVERITY

An inherited disorder affecting glycogen metabolism due to glucose-6-phosphatase deficiency. Glycogen accumulates in liver and kidneys causing hepatomegaly, hypoglycemia, and lactic acidosis. Several subtypes with varying severity.

Global Affected

25.0K

Countries

15

Symptoms

Hypoglycemia
Enlarged liver
Growth retardation
Lactic acidosis
Hyperuricemia
Hyperlipidemia
Bleeding tendency
Kidney stones

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Variable by type. Type I: manageable with diet. Type II (Pompe): ERT transformative. Type III: good prognosis. Type V (McArdle): exercise limitation only. Early diagnosis critical.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Frequent feeding/cornstarch to maintain glucose. Liver transplant for refractory cases. Enzyme replacement and gene therapy in development. Long-term complications include hepatic adenomas and renal disease.

Affected Countries

ArgentinaAustraliaBrazilCanadaGermanySpainFranceUnited KingdomIsraelItalyJapanMexicoMalaysiaPhilippinesUnited States

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

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