What is adrenoleukodystrophy?

Adrenoleukodystrophy (ADL) is a rare genetic disease that affects the brain and adrenal glands. There are several different forms of adrenoleukodystrophy, from very serious newborn and child forms, which usually kill on milder variations that may occur later in life. It is possible that many people in the same family have slightly different forms of this condition. Some types of fat begin to accumulate in the body because they cannot be divided. In the adrenal glands, fats disrupt the production of hormones and contribute to the disintegration of myelin chips in the brain that protects nerves. In addition, because fats cannot be divided into useful components, the body cannot synthesize more myelin because it needs compounds found in fats.

This g genetic state is interconnected sex and occurs mainly in boys and men. Women in general do not develop a condition or experience mild symptoms later in life because it carries a gene on only one X chromosome and their second X chromosome without a gene suppresses the expression of a defective gene. Approximately one in 100,000 people develops adrenoleukodystrophy.

People with this situation develop the lack of adrenal glands in the form known as Addison's disease, leading to a number of health problems. Neurological damage causes speech problems, stumbling walking, coordination problems, poor memory, visual problems, seizures, dementia, deafness and abnormalities of behavior. Damage is progressive and when the condition occurs in childhood, the prognosis is usually very poor. Individuals who develop adrenoleukodystrophy later in life have a better chance of survival, D have much milder symptoms.

There is no cure for adrenoleukodystrophy. Support measures, such as hormonal therapy, are used to solve health problems associated with the disease, and bone marrow transplantation seems to have some promise. Some people also had a success with Lorenzo oil, a compound named for SLavy patient with adrenoleukodystrophy, which is designed to slow down progress, although studies suggest that Lorenzo oil may not be effective in the long run.

genetic therapy can be used once to treat patients with ADL. Parents can also undergo genetic testing to determine whether they are diseases. For those who want to avoid children with this condition, parents who carry a gene, to become pregnant and choose a genetic diagnosis before implantation, in which only embryos without gene are selected for implantation.