Adrenoleukodystrophy (ALD)

• Cerebral ALD (CALD)

• Adrenomyeloneuropathy (AMN)

• Addison’s Disease

• Female ALD

1. Blood Test; to check your adrenal glands and how well they are functioning, find the mutated genes and check for the presence of a very high level of VLCFAs.
2. Magnetic Resonance Imagery (MRI); to examine the abnormalities and damage in the brain that can be an innovation of ALD.
3. Biopsy; to examine a small sample of skin for the high level of VLCFAs
4. Fibroblast Cell Culture (FCC); checks a patch of skin cell for accumulated levels of VLCFAs.

• Bone Marrow (Stem cell) Transplant

• Gene Therapy

• Steroids

• Medications

• Physical Therapy

• Diet

Symptoms

Symptoms of ALD

The symptoms of adrenoleukodystrophy depend on the type that affects you. They include the following:

Cerebral ALD:

• Attention deficit disorder (ADD); poor memory and short attention span.
• Literacy problems such as difficulty in reading and writing.
• Poor language and speech comprehension.
• Problems with movement and metabolism.
• Impaired hearing and vision.
• Hyperactivity
• Rapid behavioral changes; aggression or withdrawal.
• Pale skin
• Weakness and clumsiness
• Low blood sugar
• Crossed eyes and eye pains
• Swallowing difficulty
• Muscular cramps and spasms
• Infections occur often.
• Migraine

If the situation worsens and there are no treatments, there may be cases of:

• Speaking inability
• Seizures
• Paralysis
• Coma
• Death.

Adrenomyeloneuropathy (AMN): 

• Problems in remembering and thinking.
• Muscular weakness; arms and legs.
• Inability to maintain balance.
• Unstable gait/movement.
• Tingly sensations and numbness in legs.
• Poor erectile function.
• Inability to control urination and stopping.

Addison’s Disease: 

• General body weakness
• Weakened muscles
• Low appetite 
• Nausea and vomiting
• Loss of weight
• Darkened patches of skin
• Low blood pressure
• Abdominal cramps and pains

Female ALD: 

• Fatigue
• Muscular numbness
• Pains in the joint
• Urinary problems.

Causes

Causes of ALD

Adrenoleukodystrophy is caused by the mutation of the ABCD1 gene in the X chromosome. The ABCD1 gene makes the adrenoleukodystrophy protein (ALDP), which is responsible for breaking down and transporting very-long-chain fatty acids (VLCFAs) into the peroxisomes for processing and around the body.

When the genes are mutated, they become distorted and can no longer produce enough ALDP to break down and transport VLCFAs, therefore, leading to their accumulation of the fatty acids in the body. In their unprocessed state, they begin to destroy the nerve cells connected from your brain to the adrenal glands, spinal cord, etc, blocking out nerve signals, and causing the brain to begin losing its function.

ALD is mainly common in males than females because males have just one X chromosome, so they get to inherit the defective chromosome from a parent and it begins to affect them and is very severe. Meanwhile, females have two X chromosomes and get to only one copy of the defective gene, hence symptoms may not be present or may be mild because the healthy ABCD1 gene in the X chromosome makes enough ALDP keep the VLCFAs broke down and well transported.

FAQ

How common is ALD?

ALD is a very rare disorder that is said to happen in about 1 in 20,000 to 50,000 people worldwide.

Can ALD appear without a known family history?

Only in very few cases–about 5 to 7%–, can a person develop ALD which a genetic transfer. In this rare case, the ABCD1 gene mutates randomly and on its own without a genetic trigger. This is called the “de novo mutation”.

What is CALD?

CALD is cerebral adrenoleukodystrophy, a type of ALD that happens to male children of 3 to 10 years. It is a very chronic ALD disorder that progresses rapidly and can lead to a vegetative state and then death if not treated early enough.

How long can a child live with childhood cerebral adrenoleukodystrophy?

CALD is a very fat progressive disease and if not detected and treated in the early years of your child can bring irreversible complications. The symptoms begin showing from the age of 3 to 4 and if not tackled, in about 2 years, he can go into a long-term vegetative state (coma) for as long as 10 years before death.

Can you survive ALD?

The prognosis for this disorder is poor, especially for cerebral ALD. Unless treated, a child can survive CALD for only 5 to 10 years, while in Adrenomyeloneuropathy (AMN) and Addison's disease, a survival rate of 10 to 15 years is estimated.