Adrenoleukodystrophy is a rare hereditary condition which affects the myelin sheath and the ability of the body to process a type of fatty acids. The most damaging form primarily affects children. Strides are being taken to develop new treatments, but will take time. Keep reading to learn more about the future of this disease, or follow the original report here.
Also known as adrenomyeloneuropathy or Schilder-Addison Complex, adrenoleukodystrophy is a rare condition passed from parents to children. It has been identified in relation to an x-linked trait mainly affecting boys. Based on numbers from the Centers for Disease Control and Prevention (CDC), roughly 1 in every 20,000 people suffer from X-linked adrenoleukodystrophy.
As a result of this genetic quality, the body’s beta oxidation to function poorly. This in turn leads to the build up of very-long chain fatty acids in tissues throughout the body. The protective membrane surrounding nerve cells, known as the myelin sheath, is among the most affected tissues.
Adrenoleukodystrophy can result in three major disease categories. These include childhood cerebral form, adrenomyelopathy, and impaired adrenal gland function (also referred to as Addison disease).
The childhood cerebral form of the disease is typically observed between the ages of four and eight. Major symptoms of childhood cerebral form adrenoleukodystrophy include crossed eyes (strabismus), seizures hearing loss, muscles spasms, and other disorders related with the nervous system.
Patients with adrenomyelopathy are known to have difficulty in controlling urination, suffer from muscle weakness or leg stiffness. Arenomyelopathy patients also experience difficulty in tasks involving thinking speed and visual memory.
Adrenoleukodystrophy may also lead to adrenal gland failure or Addison disease. The major symptoms associated with Addison disease are coma, decreased appetite, skin pigmentation, vomiting, weight loss, and muscle weakness.
Diagnosis for adrenoleukodystrophy is typically accomplished by examing very long chain fatty acid (VLCFA) through use of gas chromatography and/or mass spectrometery.
Chromosome studies of the mutation in the gene ABCD 1 may also assist in diagnosis. Another step in securing a proper diagnosis may include a magnetic resonance imaging (MRI) scan of head. Treatment for adrenoleukodystrophy may include dietary therapy, transplant, and/or gene therapy.
Dietary therapy for adrenoleukodystrophy mainly involves the prohibition of very-long chain fatty acids (VLCFA). This serves as a supportive therapy to help treat symptoms and balance out the patient’s disease state. Treatment with transplants involve allogeneic hematopoietic stem cells. These cells assist in the remyelination process. Myelin sheath may be restored and further deterioration prevented. Gene therapy is a treatment based around the standard, or normal state of the ABCD 1 gene. After the selection of appropriate vectors, modified versions of the gene may be delivered to the patient.
Another treatment option exists, but is still being studied and tested. Thus far, Adrenal insufficiency has been ineffective and requires assistance from hormonal replacement therapy.
North America and Europe lead the way in terms of adrenoleukodystrophy research and treatment. This is primarily a result of the disease being more prevalent in these areas, heightened social awareness, and other supporting actors being located close by. The Asia-Pacific region, and most of the rest of the world trend behind, as a result of poor access to methods of diagnosis and treatment for the disease.
Researchers and companies involved with adrenoleukodystrophy are relatively few due to the rarity of the disease. Companies Nutra Pharma corporation, and GENETIX Pharmaceuticals, however, are noted as major players as are to observed for future breakthroughs.
