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Adrenoleukodystrophy

Overview

Leukodystrophies comprises of many diseases. All such diseases in the leukodystrophies are inherited disorder i.e it passes from parent to child. There are different gene defects in all leukodystrophy which all lead to poor development in the myelin sheath It is an inherited disease. It has two forms mainly. These two forms of disease has different pattern of inheritance.One dorm is X- linked and in this patient manifests symptom in very early age of life i.e in childhood. Another form of disease called as Adrenomyeloneuropathy, which mainly affects the spinal cord and disease manifests the symptoms in adulthood with no cerebral damage. The incidence of X-linked adrenoleukodystrophy is at least 1 in 42,000 male births.


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Causes

Myelin sheath is formed in white matter of brain. This white matter contains myelinated neurons. Myelination of the myelinated neurons is done with myelin sheath. Myelination helps in increased conduction rate of the impulses and hence provides faster conduction called salutatory conduction. In this disease there is degradation of myelin sheath and hence patients will have slow rate of response. Along with this myelin sheath defect there is also a defect in the gene which codes for a transporter protein which is coded by a gene ABCD1.The transporter protein helps in the transport of long chain fatty acids into the
peroxisomes which is essential for the formation of an enzyme to break the long chain of fatty acid into short chains. But due to the defect of this gene there is no breaking of the long chain and hence this long chain fatty acids gets accumulated in the brain and adrenal gland causes their malfunctioning. This disorder is mainly X- linked disorder which is carry forwarded to males only but on out of five women who carry gene can develop some symptoms.


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Signs & Symptoms

Symptoms include the:

Addison's disease, which is due to insufficiency of adrenal gland

Ataxia (loss of motor co-ordination)

Seizures due to abnormal impulse discharge in the brain

Visual disturbances

Auditory disturbances

Above symptoms are seen in childhood, between 2 to 4 years of age, along with cerebral damage.

In adulthood form of disease symptoms are usually associated with the spinal cord that is characterize by the numbness and pain in the limbs as spinal cord controls the motor movements and also the problem in defecation and urination as the nerves that control this arises from the spinal cord.

Cord segments.

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Prevention

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Treatments
Haematopoietic Stem Cell Transplant Modern Medicine

Haematopoietic stem cell transplant can be helpful in the stopping the progression of the disease in asymptomatic or mildly symptomatic boys who have a Loes score lower than 9 (an MRI measure of the severity of the disease), but this treatment causes high risk of mortality and morbidity and is not recommended in the patients who already have severe form of disease.

 

Usage of Drugs and Diet Control Modern Medicine

The treatment is for this disease is not available but certain treatments can be helpful in the progression of the disease-
A 4:1 mixture of glyceryl trioleate and glyceryl trierucate, this mixture is called as Lorenzo’s OIL, but this not produce much success in the treatment.
Along with this, a diet low in very long chain fatty acids can be helpful in further progression of disease.

Oleic acid may reduce the level of very long chain fatty acids.

An anti-cholesterol drug is effective only outside the body i.e in vitro called LOVASTATIN

Long chain fatty acids are mostly oils, animal fat, butter, fish oil and most other fats found in foods. To reduce the intake cut down on all of these foods.

 

 

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