Endocrine Conference 2020

Adrenoleukodystrophy or Adrenomyeloneuropathy

Adrenoleukodystrophy also known as ALD is a genetic disease or an inborn error of metabolism that affects 1 in 18000 people today. This is also known as X linked adrenoleukodystrophy as it is linked to x chromosome. This is a brain disorder that is caused due to the building up of fatty acids which are caused by the enzymes which do not function properly. This results in the destruction of the myelin sheath which is known as a protective sheath that surrounds the neurons in the brain. The destruction of the myelin sheath results in hyperactivity and seizures and also dyslexia. It’s a disorder of peroxisomal fatty acid beta oxidation which results in the accumulation of long fatty acid chains in the body. The adrenal cortex and leydig cells in the testes are also effected. The treatment options for ALD are very limited. Dietary therapy is done by Lorenzo oil. If the defect is spotted in the childhood treatment can be done by stem cell transplant and gene therapy.