Adrenoleukodystrophy or (ALD) is a rare genetic disorder that causes damage to the nervous system and adrenal glands. Symptoms include muscle spasm, loss of hearing and vision, crossed eyes, paralysis, seizures, hyperactivity, trouble with swallowing, etc.
HOW IS ADRENOLEUKODYSTROPHY DIAGNOSED?
Clinical presentation of ALD varies greatly, which complicates its diagnosis. Initial diagnosis is done to determine the plasma very long chain fatty acid (VLCFA) via gas chromatography-mass spectrometry. Upon positive VLCFA results, ALD is further confirmed by molecular genetic analysis of ABCD1