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.

Adrenoleukodystrophy is commonly known as X linked adrenodystrophy that is found associated with x linked chromosomes that is found more in males than in females. This mainly effects the adrenal glands and nervous system. This is caused due to the building up of of long chain fatty acids that destroys the myelin sheath of nerves which results in the seizures. Other side effects may also include dyslexia, vision problems, inability to speak listen. It is caused due to the peroxisomal fatty acid beta oxidation which results in the accumulation of long chain fatty acids in the parts of the body which results in the deterioration of the myelin sheath. This is caused due to the mutation of ABCD1 gene that is located on the X chromosome and this can be inherited from one generation to other generation. Children with this problem experience dyslexia at the age of 4-10 and the conditions may worsen along with the age. It is a rare genetic disorder that effects 1 in 20,000 children. Dietary therapy is done by Lorenzo oil. If the defrect is spotted in the early stage it can be treated by stem cell therapy and gene therapy.

  • Adrenoleukodystrophy in males
  • Adrenoleukodystrophy in females
  • Dietary therapy
  • Genetics of adernoleukodystrophy
  • Case studies of adrenoleukodystrophy
  • Case studies of adrenoleukodystrophy
  • Adrenoleukodystrophy in males and females

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Adrenoleukodystrophy or Adrenomyeloneuropathy Conference Speakers