What is an Adrenoleukodystrophy? | Endocrinology


Overview of Adrenoleukodystrophy

Adrenoleukodystrophy is a genetic condition that damages the membrane (myelin sheath) that insulates nerve cells in the brain. In adrenoleukodystrophy (ALD), your body does not break down long-chain fatty acids (VLCFAs), which cause saturated VLCFAs to form in your brain, nervous system, and adrenal gland.

The most common type of ALD is X-linked ALD, which is caused by a genetic defect on the X chromosome. X-linked ALD affects more men than women who have the disease.

Forms of X-linked ALD:

  • ALD in early childhood: This X-linked form of ALD usually occurs between the ages of 4 and 10. The white matter in the brain is gradually damaged (leukodystrophy), and symptoms get worse over time. If not diagnosed early, childhood-onset ALD can lead to death within five to 10 years.
  • Addison’s disease: The hormone-producing glands (adrenal glands) often do not make enough steroids (adrenal insufficiency) in people with ALD, leading to an X-linked form of ALD called Addison’s disease.
  • Adrenomyeloneuropathy: This adult-onset form of X-linked ALD is a less severe and slowly progressive form that causes symptoms such as a stiff gait and bladder and bowel dysfunction. Women who are carriers of ALD can develop mild adrenal myelitis.

What are the different types?

 ALD can present itself in many forms. Symptoms vary from one another but often get worse over time.

Brain demyelinating ALD:

45% of people with ALD have this type. It is the most serious form of ALD. Symptoms usually begin between the ages of four and eight and include:

  • Attention deficit disorder (ADD)
  • Vision, hearing, and motor function problems.
  • Behaviour problems
  • Hyperactivity
  • Easily tired
  • Clumsy
  • Low blood sugar
  • Eye pain
  • Migraines
  • Viral infections keep coming back
  • Skin appears tanned or tanned

Adrenomyeloneuropathy (AMN):

This adult form of ALD has mild symptoms. Half of those who suffer from it show no signs until they are 20 or 30 years old. Still, like ALD, AMN severely affects brain function. Some early signs:

  • Difficulty to walk
  • Balance problems
  • Changes in the way you walk (how you walk)
  • Numbness or tingling in the legs
  • Arm weakness
  • Need to urinate or defecate
  • Unstoppable
  • It is not possible to have or maintain an erection.

Addison’s disease:

Over time, ALD can cause serious damage to the adrenal glands. It can not be changed. features:

  • Weakness
  • Fatigue
  • Nausea
  • Low blood pressure
  • Blackened skin
  • Abdominal pain

Female ALD:

Women who inherit a mutated gene that causes ALD often do not have a brain disease, but they may show mild symptoms. For the most part, these start after age 35. These may include:

  • Weakness
  • Numbness
  • Joint pain
  • Urinary problems

Symptoms of adrenoleukodystrophy

Symptoms of juvenile brain ALD:

  • Muscle pains
  • Convulsions
  • Difficulty swallowing
  • Hearing loss
  • Problems with understanding language.
  • Vision error
  • Hyperactivity
  • Paralysis
  • Eat
  • Decreased control of fine motor skills
  • Crossed eyes

Signs of adrenomyelopathy:

  • Adequate control of urination
  • Weak muscles
  • Leg strength
  • Visual perceptions are difficult to remember and remember

Signs of adrenal insufficiency or Addison’s disease:

  • Poor appetite
  • Weight Loss
  • Decreased muscle mass
  • Vomiting
  • Weak muscles
  • Eat
  • Dark areas of colour or pigment on the skin

Causes and risk factors of adrenoleukodystrophy

Adrenoleukodystrophy protein (ALDP) helps your body break down very-long-chain fatty acids (VLCFA). If the protein doesn’t do its job, fatty acids will form inside your body. Damages the outer layer of cells within you:

  • Spine
  • Then the Do
  • Kidney glands
  • Testicles

People with ALD have mutations in the gene that makes ALDP. Their bodies don’t make enough ALDP.

Men are usually affected by ALD earlier than women and tend to have more severe symptoms. ALD affects males more than females because it is inherited in the X-linked pattern. This means that the genetic mutation responsible is on the X chromosome. Males have only one X chromosome, while females have two. Because women have two X chromosomes, they have a common gene and a copy with a genetic mutation.

Women who have only one copy of the mutation have far fewer symptoms than men. In some cases, women who carry the gene have no symptoms. A single copy of your gene makes enough ALDP to help mask your symptoms. Most women with ALD have adrenomylopathy. Addison’s disease and juvenile brain ALD are less common.

Diagnosis of adrenoleukodystrophy

The symptoms of ALD mimic other diseases. Tests are needed to differentiate ALD from other neurological conditions. Your doctor may order a blood test to:

  • Look for unusually high-level VLCFA
  • Check your adrenal glands
  • Find the genetic mutation that causes ALD

Damage to your brain can occur if your doctor uses an MRI. Fibroblast cell culture or biopsy samples and skin can also be used to analyze VLCFAs. Children with suspected ALD may need additional tests, including vision screens.

Treatment of adrenoleukodystrophy

There is no cure for adrenoleukodystrophy. However, stem cell transplantation can stop the progression of ALD when the first neurological symptoms appear. Doctors focus on relieving symptoms and slowing the progression of the disease.

Treatment options may include:

  • Stem cell transplantation: It is an option to slow or stop the progression of adrenal cardio dystrophy in children if ALD is diagnosed and treated early. Stem cells can be taken from the bone marrow through a bone marrow transplant.
  • Treatment of adrenal insufficiency: Most people with ALD develop adrenal insufficiency and need regular tests of the adrenal glands. Adrenal insufficiency can be effectively treated with steroids (corticosteroid replacement therapy).
  • Drugs: Your doctor may prescribe medications to relieve symptoms, including seizures and convulsions.
  • Physical therapy: Physical therapy can help relieve muscle pain and reduce muscle stiffness. Your doctor can recommend wheelchairs and other moving equipment if necessary.

In a recent clinical trial, children with early-stage brain ALD were treated with gene therapy as an alternative to stem cell transplantation. The first results of gene therapy are promising. Disease progression was confirmed in 88% of the children who participated in the trial. More research is needed to evaluate the long-term results and safety of gene therapy for brain ALD.

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