DISEASE SCANNER
Global Incurable Diseases Tracker
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Genetic Disorder
Adrenoleukodystrophy (ALD)
HIGH SEVERITY
A rare X-linked genetic disorder caused by mutations in the ABCD1 gene, leading to accumulation of very long-chain fatty acids in the nervous system and adrenal glands. Childhood cerebral form causes progressive neurological deterioration.
Global Affected
18.0K
Countries
15
Symptoms
Behavioral changes
Learning disabilities
Visual loss
Seizures
Hearing loss
Muscle weakness/spasticity
Adrenal insufficiency
Progressive dementia
Treatment Options
Hematopoietic stem cell transplant
Gene therapy
Adrenal hormone replacement
Physical therapy
Speech therapy
Seizure management
Risk Factors
1X-linked inheritance
2Family history
3ABCD1 gene mutation
4Male sex
Diagnostic Methods
- 1Plasma VLCFA levels
- 2Genetic testing
- 3MRI of brain
- 4Adrenal function testing
Prognosis
Childhood cerebral form: fatal within 2-5 years without treatment. With early transplant, progression can be halted.
Prevention
- Genetic counseling
- Newborn screening
- Family screening
Research Status
Hematopoietic stem cell transplant effective for early cerebral ALD. Gene therapy (eli-cel) FDA-approved. Lorenzo's oil may slow progression.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1315
- https://rarediseases.org/rare-diseases/adrenoleukodystrophy
- 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.