ADRENOLEUKODYSTROPHY

AKA
ALD

By: Kyra McIntyre

 ORGANELLE

• The organelle that ALD resides in, is called the peroxisome

• Peroxisomes have two functions:
• Breaks down fatty acids to be used for forming membranes and
as fuel for respiration
• Transfers hydrogen from compound to oxygen to create
hydrogen peroxide, then converts hydrogen peroxide into water.
 ADRENOLEUKODYSTROPHY

• Adrenoleukodystrophy, or ALD, is a deadly genetic disease found in the

peroxisomes. ALD is caused by a genetic abnormality affecting the X
chromosome, known as an “x-linked” condition. ALD usually affects men
because when a women has an abnormality with one X chromosome, she has
a second one. But males don’t, so if they inherit this genetic abnormality they
will get the disease.
• This disease is a brain disorder that destroys myelin, the protective sheath that
surrounds the brain’s neurons, which is the nerve cells that allows us to think
and control our muscles.
• In ALD, your peroxisomes fail to break down long-chain fatty acids causing
saturated VLCFAs (very long chain fatty acids) to build up in the brains,
nervous system and adrenal gland.
 SYMPTOMS AND EFFECTS

• There are different types of ALD.

• Symptoms of childhood cerebral ALD include:
• Muscle spasms, seizures, trouble swallowing, loss of hearing, trouble with language
comprehension, impaired vision, hyperactivity, paralysis, coma, deterioration of fine
motor control, and crossed eyes.

• Symptoms of adrenomyelopathy (adult-onset ALD):

• Poor control of urination, weak muscles, stiffness in the legs, difficulty thinking and
remembering visual perceptions.
• Adrenal insufficiency is often the first sign of ALD, this relates to a form of ALD
called Addison’s disease. Symptoms of this disease are:
• Poor appetite, weight loss, decreased muscle mass, vomiting, weak muscles, coma, and
darker areas of skin color or pigmentation.
 DIAGNOSIS

• Because ALD is similar to other neurological conditions, some tests may be

needed to distinguish ALD.
• Doctors may do a blood test to look for abnormally high levels of VLCFAs,
check your adrenal glands, and find the genetic mutation that caused ALD.
• Doctors may also look for any damage caused to the brain using an MRI scan.
Skin samples or a biopsy and fibroblast cell culture can also be used to test for
VLCFAs.
• Children may need further testing, including vision screens.
 PROGNOSIS OF INDIVIDUAL WITH
DISEASE

• ALD affects 1 in 18,000 people.

• It can affect anyone but most severely affects boys and men.
• The life expectancy of childhood cerebral ALD is usually between ages four
and ten years. The prognosis is usually poor, especially if not diagnosed before
significant symptoms develop.
• The life expectancy of adult-onset ALD is about ten years if left untreated.
However early diagnosis and stem cell therapy can help slow down the damage
caused by the disease.The prognosis is usually poor nonetheless.
 TREATMENTS

• ALD has no cure. However, there are four main treatments used to stop or slow
the progression of ALD:
• Stem cell transplants are used to slow or stop the progression of ALD mainly in
children, if diagnosed early.
• Adrenal insufficiency treatment is used for people who have Addison’s disease ALD.
People can go in to get their adrenal glands tested then treated effectively with steroids.
• Medications can be prescribed by a doctor to help relieve symptoms.
• Physical therapy can be used to help relieve muscle spams and stiffness.
• Here is a website with support groups for people with ALD and their care takers.
• https://adrenoleukodystrophynews.com/2020/02/06/support-groups-for-people-
affected-by-adrenoleukodystrophy/
 SUMMARY

• ALD is a genetic disease found in the peroxisomes and caused by

abnormal X chromosomes. This disease affects the nervous system
and the adrenal glands. There are three forms of ALD; childhood
cerebral ALD, adult-onset adrenomyeloneuropathy (AMN), and
adrenal-insufficiency or Addison’s disease. The disease mainly affects
males.
PICTURES
 CREDITS

• https://factslegend.org/69-mind-blowing-peroxisomes-facts/
• https://micro.magnet.fsu.edu/cells/peroxisomes/peroxisomes.html
• https://study.com/academy/lesson/peroxisomes-definition-structure-functions.html
• https://www.mayoclinic.org/diseases-conditions/adrenoleukodystrophy/symptoms-causes/syc-20369157
• https://adrenoleukodystrophynews.com/2019/11/11/how-does-adrenoleukodystrophy-affect-life-expectancy/
• http://www.stopald.org/frequenly-asked-questions-faqs
• https://www.mayoclinic.org/diseases-conditions/adrenoleukodystrophy/diagnosis-treatment/drc-20369160
• https://adrenoleukodystrophynews.com/2020/02/06/support-groups-for-people-affected-by-adrenoleukodystrophy/
• https://rarediseases.info.nih.gov/diseases/5758/x-linked-adrenoleukodystrophy
• https://infograph.venngage.com/p/248629/adrenoleukodystrophy-by-paramjot-gogia
• https://thinfilm.wordpress.ncsu.edu/research/basics-of-ald/