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What is Neonatal Adrenoleukodystrophy Overview about?
Adrenoleukodystrophy (ALD) is a rare genetic disorder caused by mutations in the ABCD1 gene located on the X chromosome. This results in the buildup of very long chain fatty acids which damages the myelin sheath of nerves. ALD presents variably as adrenal insufficiency, cerebral degeneration, or progressive paralysis. Diagnosis involves detecting elevated fatty acids in blood and genetic testing. Treatment options are limited but may include dietary supplements, stem cell transplants, or managing adrenal in
- Author
- Dipti Madan
- Language
- EN