Adrenoleukodystrophy (ALD), sometimes referred to as Addison’s disease or Cerebral sclerosis is a life-threatening genetic condition that primarily affects boys and men. It is a disease that destroys the membrane (myelin sheath) that isolates nerve cells in the brain and affects one in 17,000 people globally.
Adrenoleukodystrophy inhibits the ability of your body to break down very-long-chain fatty acids (VLCFAs) which results in saturated VLCFAs to build up in your brain, nervous system, and adrenal gland. This makes it impossible for nerves to send signals to the brain.
Adrenal glands, which are also responsible for the regulation of the immune system, blood pressure and other functions, are seriously impaired by ALD.
Adrenoleukodystrophy is caused by a defective gene in the X chromosome. The X chromosome determines whether you are a male or a female. Males have a single X chromosome, so they need to inherit only one defective gene from the parent to be affected.
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Females are less likely to have ALD because they have two chromosomes. nevertheless, when a female is eventually affected by ALD, it is less severe when compared to males.
Types Of Adrenoleukodystrophy
ALD is of different types with different symptoms as you can see below:
Childhood Cerebral ALD
Typically, this ALD form occurs between the ages of 4 and 10. This type of X-linked ALD gradually damages the white matter of the brain and its symptoms worsen over time.
Childhood Cerebral Adrenoleukodystrophy (CCA) will lead to death within 5 to 10 years if not diagnosed early enough.
The symptoms include:
- Attention deficit disorder (ADD)
- Behavior problems
- Problems with vision, hearing, and motor function
- Getting tired easily
- Hyperactivity
- Low blood sugar
- Clumsiness
- Migraines
- Eye pain
- Skin that looks tanned or bronzed
- Viral infections that keep re-occurring.
Adrenomyeloneuropathy (AMN)
This form of X-linked ALD mainly affects adults and appears to be less serious and progressive. Many people who have it don’t display symptoms until they’re in their 20s or 30s. Adrenomyeloneuropathy, like ALD, can lead to a serious loss of brain function.
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Women who are ALD carriers can also develop a mild form of AMN.
Symptoms of Adrenomyeloneuropathy include the following:
- Difficulty walking
- Changes in gait
- Balance problems
- Numbness or tingling in the legs
- Weakness in the arms
- Incontinence
- Feeling an urgent need to pee or poop
- Inability to get or keep an erection
Addison’s Disease
This disorder is due to the failure of the adrenal glands to produce enough steroids in people living with Adrenoleukodystrophy.
Adrenoleukodystrophy affects the adrenal glands over time and cannot be reversed.
- Weakness
- Nausea
- Fatigue
- Darkened skin
- Low blood pressure
- Stomach pain
Female Adrenoleukodystrophy
Women who inherit the mutated gene that causes ALD usually don’t have the brain disease but may show mild symptoms. Symptoms of the condition typically begin after the age of 35.
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They can include:
- Weakness
- Urinary problems
- Joint pain
- Numbness
What Causes Adrenoleukodystrophy?
Adrenoleukodystrophy protein (ALDP) is responsible for the degradation of very long fatty acids (VLCFAs). Fatty acids build up in the body when the protein does not do its job. This can damage the outer layer of the brain cells, the spinal cord, the testes, and the adrenal glands.
People living with the condition have mutations in the gene that cause the body not to produce enough ALDP.
Adrenoleukodystrophy usually affects the male sex and occurs at an earlier age than in females. This is because the gene responsible has an X chromosome mutation. Men have only one while women have two. This means that women may have a regular gene and a single gene mutation copy.
Women have much milder symptoms than men due to this copy of the mutation. In certain cases, women who bear the gene do not show any symptoms at all.
Diagnosis Of Adrenoleukodystrophy
Symptoms of ALD can mimic other diseases. It can take a while to be diagnosed as other diseases need to be ruled out first. Early signs of the disease can be overlooked or misplaced as more common or moderate health conditions, such as learning disabilities or attention deficit disorder (ADD).
Diagnosing ALD will require blood tests to determine the particular type of fatty acids that people with ALD have at high levels. This test works better for men.
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Another way to validate ALD is to use MRI (Magnetic Resonance Imaging) to scan the brain for disease-related injuries. Biopsies (skin samples) and cell culture of fibroblasts can also be used to test for very-long-chain fatty acids.
Children with this illness will require additional testing.
Treatment Of Adrenoleukodystrophy
ALD can be treated via the following means:
Gene Therapy
This procedure includes the removal of damaged stem cells and the repair of the defective gene that causes ALD. For the replacement of defective cells, a safe version of the stem cells is used.
Bone Marrow Transplant
This treatment is useful for boys with early symptoms of the disease. Good red blood cells from the donor are passed to the infant in order to avoid further damage to myelin. This procedure will take months to recover. However, children who have been transplanted early enough will have a normal life.
Lorenzo’s Oil
Lorenzo’s oil is a combination of olive oil and rapeseed that prevents the body from developing fatty acids that break down myelin. However, the medication has not yet been licensed for use by the FDA, although it may delay the onset of the disease in boys.
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Medication
A daily intake of steroid pills will help treat Addison’s disease. Consult your health professional first before using any steroid medication due to its serious adverse effects.
What Organelle Is Affected By Adrenoleukodystrophy?
Fatty acids build up in the body when the Adrenoleukodystrophy protein (Protein responsible for the degradation of very long fatty acids (VLCFAs) is deficient or does not do its job well. This can damage the outer layer of the brain cells, the spinal cord, the testes, and the adrenal glands.
Can Adrenoleukodystrophy Be Cured?
ALD can be treated through various means which include; gene therapy, bone marrow transplant, lorenzo’s oil and with certain medication e.g. steroids.
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Can Adrenoleukodystrophy Be Prevented?
ALD is a genetic disorder therefore, there is no way to prevent it. If you are a woman with an ALD family background, your doctor will prescribe genetic therapy before you can start having kids.
References:
- Adrenoleukodystrophy (ALD) – hopkinsmedicine.org
- What is Adrenoleukodystrophy? – WebMD