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Adrenoleukodystrophy

INFORMATION ON ADRENOLEUKODYSTROPHY
Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the insulating membrane Called myelin sheath which surrounds nerve cells in the brain. People with Adrenoleukodystrophy accumulate high levels of saturated, very long chain fatty acids (VLCFA) in the brain.
CAUSES OF ADRENOLEUKODYSTROPHY
The factors which leads to the development of Adrenoleukodystrophy are:-

1. Genetic disorder.
2. Loss of myelin.
3. Dysfunction of adrenal gland.
SYMPTOMS OF ADRENOLEUKODYSTROPHY
1. Visual loss.
2. Learning disabilities.
3. Seizures.
4. Poorly articulated speech.
5. Difficulty in swallowing.
6. Deafness.
7. Fatigue.
8. Vomiting.
9. Skin pigmentation.
DIAGNOSIS OF ADRENOLEUKODYSTROPHY
The diagnosis of Adrenoleukodystrophy can be established by clinical findings and the detection of serum long chain fatty acid levels. MRI examination reveals white matter abnormalities, and neuroimaging findings of this disease are quite reminiscent of the findings of multiple sclerosis. Genetic testing for the analysis of the defective gene is available in some centers.
TREATMENT OF ADRENOLEUKODYSTROPHY
A specific treatment for Adrenoleukodystrophy is not available, but a diet low in long chain fatty acids and the administration of special oils have been demonstrated to lower the blood levels of the long chain fatty acids. These oils are referred to as Lorenzo's oil, after the son of the family who discovered the treatment.

 

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