What is the Cause of Adrenoleukodystrophy?

Understanding ALD: Genetic Disorder Affecting Brain & Hormones

Adrenoleukodystrophy (ALD) is a rare condition resulting from an X-linked genetic mutation that impacts the nervous system and adrenal glands. The root cause is a mutation in a specific gene.

These genes serve as blueprints for producing proteins vital to bodily functions. When a mutation occurs, the resulting protein may be defective or missing, disrupting critical processes. Thus, it is crucial to understand the causes and symptoms of this disease for early diagnosis and proper treatment.

Keep reading for more insight.

What is ALD?

Adrenoleukodystrophy (ALD) is a genetic disease that attacks the nerve cell covering the layer of the brain and spinal cord called the myelin sheath. The sheath is an insulating covering. When this is disrupted, nerve impulses cannot travel normally along the body's pathways, leading to problems such as muscle malfunction or paralysis.

In adrenoleukodystrophy (ALD), the VLCFAs cannot be metabolised by the body, and they build up in the brain, nervous system, and adrenal glands. This buildup is thought to cause inflammation that harms the protective myelin sheath.

What is the primary cause behind adrenoleukodystrophy?

ALD is usually inherited as an X-linked disorder, mainly affecting males. Females carrying the gene may experience a milder version later in life. The disorder is found in around 1 in 20,000 people, regardless of ethnicity.

ALD occurs in specific individuals because of a first gene mutation, known as sporadic, that is not inherited. This condition leads to the buildup of long-chain fatty acids in tissues such as the nervous system, adrenal glands, and testes, which are responsible for their normal functioning.

The 3 primary forms of ALD are:

• Childhood cerebral ALD typically develops between the ages of 4 and 8.
• Adrenomyelopathy—typically starts in men aged in their 20s or older
• Addison's disease or Addison-like form—characterised by the adrenal glands' inability to produce sufficient steroid hormones.

What are the key symptoms of adrenoleukodystrophy?

Listed below are the main symptoms of adrenoleukodystrophy:

Symptoms of Cerebral ALD in Children

• Alterations in muscle tone frequently lead to spasms or uncontrolled movements.
• Crossed eyes
• Poorer handwriting over time
• Difficulty with school performance
• Difficulty processing spoken language
• Difficulty hearing
• Hyperactivity
• Progressive nervous system illnesses, such as coma, loss of fine motor function, and paralysis
• Seizures
• Difficulty swallowing
• Abnormalities of vision, which may lead to blindness
   

Symptoms of Adrenomyelopathy

• Urinary control difficulties
• Worsening muscle weakness or stiff legs
• Reduced cognitive processing and visual memory
   

Symptoms of Adrenal Insufficiency (Addison's Type)

• Coma
• Loss of appetite
• Darkening of the skin
• Weight and muscle loss
• Weak muscles
• Vomiting
   

How is adrenoleukodystrophy transmitted?

ALD is a hereditary condition passed down from one or both parents. It is more severe in males and can present in childhood or adulthood. Female carriers often experience a milder version of the condition during their adult years.

What is the new treatment for adrenoleukodystrophy?

There is no established cure for adrenoleukodystrophy (ALD) yet. Most treatment efforts are aimed at symptom management and retardation of the disease process. Treatment strategies are tailored based on the specific ALD type and the individual’s symptoms. These include:

Adrenal Hormone Therapy

Monitor adrenal function closely in patients with ALD. If adrenal insufficiency is detected, administer corticosteroid replacement therapy.

Stem Cell Transplantation

A stem cell transplant is the only standard treatment that stands a possibility of slowing down the progression of ALD in children. In cases of early detection, especially when MRI scans reveal brain involvement and no detectable neurological symptoms, a transplant can prevent disease progression. HSCT and gene therapy (where available) are the only treatments that may halt cerebral ALD progression if administered early.

Drug Therapy

Medications can be prescribed by doctors to control symptoms such as seizures and stiffness of muscles.

Supportive Therapies

Other supportive therapies to enhance the quality of life may involve:

• Physical therapy
• Mental health therapy
• Focused educational support
   

New Therapies Under Investigation

• Gene Therapy: This involves introducing a normally functioning gene to replace the defective one responsible for ALD.
• Lorenzo’s Oil: A blend of oleic and erucic acid, this therapy may help lower the concentration of very long-chain fatty acids (VLCFAs) in the blood. When given before symptoms emerge, it might delay or reduce the severity of the disease.
   

How Long Can You Live With Adrenoleukodystrophy?

The life span of individuals with adrenoleukodystrophy (ALD) can differ significantly depending on the specific form of the disorder and the age at which symptoms first appear. In the cerebral type, which occurs in childhood, symptoms rapidly progress, and without immediate treatment like a stem cell transplant, most children may live only a few years after symptoms begin.

They often fall into a vegetative state within two years and survive up to 10 years in that condition. In contrast, those with the adult-onset type (adrenomyeloneuropathy or AMN) survive for a few decades but experience progressive worsening of mobility and neurological function with age.

Early detection and therapy are essential to enhance outcomes and extend life in ALD patients.

Adrenoleukodystrophy is a genetic disease-altering condition, but prompt diagnosis and treatment can control the course of the disease and enhance the quality of life. It is also vital to have health insurance to secure your health and finances during critical times.

At Star Health, we offer comprehensive coverage for various health conditions under our general insurance plans. We also provide hassle-free cashless claim settlements with reduced turnaround time across over 14,000 network hospitals in India.