Adrenoleukodystrophy

Adrenoleukodystrophy or ALD is a genetic recessive disorder that is typically linked with the X-chromosome, meaning males are the general sufferers of the disease, although females can also have them. ALD is characterised by the deterioration and damage of the myelin and the abnormal storage of fatty acids in almost all cells of the body.

When the chain of acids accumulate, it affects mainly the nervous system and the adrenal gland, disrupting their normal activity. The disease have seven recognisable forms: there is a neonatal form, early childhood, adolescent, and progressive forms.

Symptoms of ALD include seizures, muscle weakness, swallowing difficulties, visual impairment, deterioration of motor skill, and brain damage. Coping with adrenoleukodystrophy involves treatments, with the adrenal dysfunction supplemented with steroids.

There is no available specific treatment for the disease, so there are varying ways of coping with adrenoleukodystrophy. It was also studied that dietary restriction of the VLCFA lowered the blood sugar levels of the chain of fatty acids but is insufficient for treatment. Patients who are suspected of having the disease can also undergo intraurine diagnosis, skin biopsy, chromosome study from the neonatal form, heat CT scans, and MRI.

Another way of coping with adrenoleukodystrophy is bone marrow transplant, although this procedure is currently an experimental treatment. The best way to cope with the disease at the moment is prevention of it. Genetic counselling is advised to prospective parents.