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Adrenoleukodystrophy - ALD

Those with ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA) in the brain and adrenal cortex because they do not produce the enzyme that breaks down these fatty acids in the normal manner. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of ALD.

ALD has two subtypes                                                                                                                                                                                 

The most common is the X-linked form (X-ALD), which involves an abnormal gene located on the X-chromosome. Women have two X-chromosomes and are the carriers of the disease, but since men only have one X-chromosome and lack the protective effect of the extra X-chromosome, they are more severely affected. Onset of X-ALD can occur in childhood or in adulthood.

The childhood form is the most severe, with onset between ages 4 and 10. The most common symptoms are usually behavioural changes such as:

• Abnormal withdrawal or aggression.
• Poor memory.
• Poor school performance.
• Visual loss.
• Learning disabilities.
• Seizures.
• Poorly articulated speech.
• Difficulty swallowing.
• Deafness.
• Disturbances of gait and coordination.
• Fatigue.
• Intermittent vomiting.
• Increased skin pigmentation.
• Progressive dementia.

Adult-onset form, which typically begins between ages 21 and 35, symptoms may include:

• Progressive stiffness.
• Weakness or paralysis of the lower limbs.
• Ataxia.

Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function. A mild form of ALD is occasionally seen in women who are carriers of the disorder. Symptoms include:

• Progressive stiffness.
• Weakness or paralysis of the lower limbs.
• Ataxia.
• Excessive muscle tone.
• Mild peripheral neuropathy.
• Urinary problems.

Prognosis for patients with ALD is generally poor due to progressive neurological deterioration. Death usually occurs within 1 to 10 years after the onset of symptoms.

Treatment                                                                                                                                                                                                     

• Adrenal function must be tested periodically in all patients with ALD.
• Treatment with adrenal hormones can be lifesaving.
• Symptomatic and supportive treatments for ALD include:
• Physical therapy.
• Psychological support, and special education.
• Recent evidence suggests that a mixture of oleic acid and erucic acid, known as "Lorenzo's Oil," administered to boys with X-ALD can reduce or delay the appearance of symptoms. [2]
• Bone marrow transplants can provide long-term benefit to boys who have early evidence of X-ALD, but the procedure carries risk of mortality and morbidity and is not recommended for those whose symptoms are already severe or who have the adult-onset or neonatal forms.
• Oral administration of docosahexanoic acid (DHA) may help infants and children with neonatal ALD [1]

1. Ninds.nih.gov

2. Wiki

1. Oleic acid is a monounsaturated omega-9 fatty acid found in various animal and vegetable sources.
2. Erucic acid is a monounsaturated omega-9 fatty acid, prevalent in rapeseed, wallflower seed, and mustard seed.
3. Lorenzo's oil is a 4:1 mixture of glycerol trioleate and glycerol trierucate (the triglyceride forms of oleic and erucic acid), prepared from olive oil and rapeseed oil. It is used in the investigational treatment of asymptomatic patients adrenoleukodystrophy (ALD). “The oil was formulated by Augusto and Michaela Odone after their son Lorenzo was diagnosed with the disease in 1984, at the age of five”.  
4. Docosahexaenoic acid (DHA) is an omega-3 essential fatty acid

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