Adrenoleukodystrophy also known as X-linked Adrenoleukodystrophy (ALD) is a rare genetic disease linked with the X chromosome, which affects the nervous system and the adrenal gland. Due to its association with the X-chromosome, it is predominant in males. In ALD, the fatty covering (myelin) present in the brain for insulating the nerves and spinal cord deteriorates. As a result of this deterioration, the signal transmitting capacity of the nerves reduces drastically. The initial symptoms of ALD in young males are emotional instability, disruptive behavior and hyperactivity. In older males too similar symptoms are observed
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
HOW IS ADRENOLEUKODYSTROPHY TREATED?
The treatment suggested for ALD is: • Dietary modifications • Usage of Lorenzo oil to help lower VLCFA • Gene therapy • Hormonal replacement • Epidemiology
DID YOU KNOW?
This condition is also known as Bronze Schilder's Disease.