DISEASE SCANNER
Global Incurable Diseases Tracker
Krabbe Disease (Globoid Cell Leukodystrophy)
A rare, inherited disorder destroying the protective coating (myelin) of nerve cells in the brain and throughout the nervous system. Caused by deficiency of galactocerebrosidase enzyme. Most common form is infantile with rapid progression. Affects approximately 1 in 100,000 people.
80.0K
30
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1GALC enzyme assay
- 2GALC gene testing
- 3MRI of brain
- 4Nerve conduction studies
- 5Lumbar puncture
- 6Newborn screening (some states)
- 7Prenatal testing
- 8Carrier testing
Prognosis
Poor for infantile form (fatal by age 2-3 without transplant). Late-onset forms slower progression. HSCT improves outcomes if done early. Quality of life severely affected. Neurological damage irreversible. Life expectancy variable. Newborn screening allows presymptomatic treatment.
Prevention
- Genetic counseling
- Newborn screening
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Hematopoietic stem cell transplant for pre-symptomatic infants or early symptomatic. Enzyme replacement research ongoing. Gene therapy clinical trials. Newborn screening in some states. Supportive care. Physical therapy. Anticonvulsants. Tube feeding. No cure for symptomatic patients.
Affected Countries
Sources
- https://www.mayoclinic.org/diseases-conditions/krabbe-disease
- https://www.hematology.org/education/patients
- https://www.ncbi.nlm.nih.gov/books
- https://rarediseases.org/rare-diseases
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.