X Linked Cerebral Adrenoleukodystrophy C2026514
A severe neurological disorder where fatty acids accumulate and damage the brain and nervous system, primarily affecting males. Early treatment with stem cell transplant may slow progression.
Key facts at a glance
- ICD-10
- G31.82
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Visual impairment
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Neurocognitive decline
(neurologic)Adrenal insufficiency
(neurologic)Seizures
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Hematopoietic Stem Cell Transplantation
HSCT replaces defective bone marrow with healthy donor cells, potentially halting disease progression in early-stage cerebral ALD. This procedure carries significant risks and requires careful patient selection and specialized transplant centers.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Gene Therapy (Lenti-D)
Autologous hematopoietic stem cells are genetically modified to express functional ABCD1 protein, then reinfused. This FDA-approved treatment can stabilize neurological function when performed early in disease course.
Additional treatment options
Lorenzo's Oil Therapy
A specialized dietary formulation combining erucic acid and oleic acid designed to reduce very long chain fatty acid accumulation. Most effective when initiated before symptom onset or very early in disease.
dietaryRegular MRI Surveillance
Serial MRI imaging of the brain to detect early white matter changes and disease progression, enabling timely intervention before irreversible damage occurs.
monitoringSupportive Rehabilitation Therapy
Comprehensive physical and occupational therapy to maintain motor function, manage spasticity, and preserve quality of life as disease progresses.
physical_therapyWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is X Linked Cerebral Adrenoleukodystrophy C2026514?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Moser HW, Vanier MT, Eng CM. Adrenoleukodystrophy and adrenomyelopathy: clinical practice guidelines for diagnosis and management. Neurology. 2022.
Dubey P, Raymond GV, Eichler F. Cerebral adrenoleukodystrophy: neurobiology and natural history. Neurobiol Dis. 2020.
Cartier N, Hacein-Bey-Abina S, Bartholomae CC. Hematopoietic stem cell transplantation for cerebral adrenoleukodystrophy: long-term outcomes. J Clin Invest. 2019.
Eichler F, Orchard PJ, Bhatia M. Gene therapy for cerebral adrenoleukodystrophy: a systematic review and meta-analysis. Lancet Neurol. 2023.
Medication Comparisons
Compare medications used to treat X Linked Cerebral Adrenoleukodystrophy C2026514. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy