Adrenoleukodystrophy By: nevaeh sirio and hannah sandoVal

Adrenoleukodystrophy is a rare, genetic disorder characterized by the breakdown or loss of myelin, the fatty covering surrounding nerve cells in the brain, and progressive dysfunction of the adrenal gland.

This disease effects the brain.

Symptoms:

poor appetite.

weight loss.

decreased muscle mass.

vomiting.

weak muscles.

coma.

darker areas of skin color or pigmentation.

Decreased muscle mass

Cause:

"Adrenoleukodystrophy is an X-linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome." Says https://rarediseases.org/rare-diseases/adrenoleukodystrophy/

In simple terms it's a genetic mutation.

"ALD is inherited as an X-linked recessive genetic disease. X-linked recessive genetic disorders are conditions caused by an abnormal gene on the X chromosome. Females have two X chromosomes but one of the X chromosomes is “turned off” and all of the genes on that chromosome are inactivated. Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. Carrier females often do not display symptoms of the disorder because it is usually the X chromosome with the abnormal gene that is turned off. A male has one X chromosome and if he inherits an X chromosome that contains a disease gene, he will develop the disease. Males with X-linked disorders pass the disease gene to all of their daughters, who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring. Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease, and a 25% chance to have an unaffected son." Says https://rarediseases.org/rare-diseases/adrenoleukodystrophy/.

In simple terms the disease only effects mostly males.

ALD is treated with Lorenzo oil and stem cell transplants.

Lorenzo oil is a combination of two fats from olive oil and rapeseed oil which has been proving effective in subsideing the symptoms of ALD in boys who are not yet symptomatic.

A stem cell transplant is for boys with ALD who have a Loes score lower than 8 or 9. A loes score is an MRI measure of the severity of the disease. These boys are generally considered candidates for stem cell transplantation. There are two sources for transplanted stem cells: umbilical cord blood or bone marrow. The goal of both of these treatments is to provide the patient with healthy stem cells that produce a functioning ALD protein, the protein that is lacking in people with ALD. Some of these actually make it into the brain halting or even reversing the brain damage.

Ways it's tested:

Blood testing. These tests check for high levels of very long-chain fatty acids which aren't being broken down like they should be.

Blood testing

Doctors also use blood tests to evaluate how well your adrenal glands work.

MRI. allowing doctors to detect abnormalities in your brain that could indicate adrenoleukodystrophy, including damage to the nerve tissue of your brain.

MRI

Vision screening. Measuring visual responses can monitor disease progression in males who have no other symptoms.

Vision screening

Skin biopsy and fibroblast cell culture. A small sample of skin may be taken to check for increased levels of VLCFA in some cases.

Skin biopsy

It is most commonly found in boys and men while women are usually the carriers. It occurs 1 in every 20,000 to 50,000.

Boys and men

I learned that Down syndrome may be a genetic disorder that people look at a lot but there is so much more out there that can even effect us personally.

Could you be next???

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