Those with Adrenoleukodystrophy aren’t able to break down fats, which means that certain types of fat build up in the body. The fats than keep the adrenal glands from making hormones and in the brain it causes the myelin sheath (protects the nerves) to break down. Since the fats aren’t able to be broken down the body can’t produce more of the myelin, to do so it would need materials found in fat.
Why is it considered X-Linked Recessive?
This means that the gene of interest on the X chromosome is recessive. The X chromosome is a sex chromosome meaning (among other things) it is inherited differently between men and women. Women normally receive two X chromosomes. As this is a recessive trait it would mean that a woman would need to inherit the defective gene in both chromosomes one from her mother and the other from her father (an affected individual) to display the trait. As males only receive one X chromosome (from the mother the other a Y from the father) they only need to inherit the inherit the defective gene once (from the mother) for it to be displayed. This makes the characteristics of the trait or disease apparent more often in male offspring and the females are usually the carriers.
What are the symptoms?
There are various symptoms associated with ALD but a few include loss of vision, unable to remember, deafness, a hard time learning, changes in behavior and many more.
What treatments are available?
Right now there is a treatment available called Lorenzo's Oil which is a mixture of oleic acid and erucic acid. There is some evidence that it slows down the progression of the symptoms in a way that it takes them longer to appear. There are also bone marrow transplants available but there is a risk of death with it, especially for those that already have maturing symptoms.
Personal Experience: ALD Experience
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