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Adrenoleukodystrophy (ALD)

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Hope Crandall

on 24 March 2010

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Transcript of Adrenoleukodystrophy (ALD)

ADRENOLEUKODYSTROPHY (ALD) WHAT IS ALD? SYMPTOMS TREATMENT INHERITANCE HARDSHIPS SOURCES Caused by mutation of the gene ABCD1, which encodes ALDP (ALD protein). ALDP = transport protein located in the membrane of the peroxisome, which helps very long chain fatty acids (VLCFAs) pass through the membrane, where the peroxisome would then break them down. ALD is characterized by the accumulation of VLCFAs in the: adrenal glands brain's white matter blood plasma fibroplasts There are several types of ALD, the most common being Childhood ALD, which affects boys from ages 4-10. 1 out of every 20,000 boys have ALD. Neurological Effects Addison's Disease ALD causes progressive neurologic deterioration, because of demyelination (the deterioration of the myelin sheath). A protective coating around the neurons. It is responsible for signals sent between neurons. Located in the brain and spinal cortex. Extra VLCFAs build up on the myelin sheath and cause it to deteriorate, which means the neurons cannot transmit signals. This damages the nervous system and brain functionality. Outward Symptoms: Decline of cognition Paralysis Dementia Complete physical/mental disability Coma (within 2 years) Death (within 5 years) Aphasia (decreased understanding of verbal communication) Poor speech Vision loss Poor memory Deafness Behavioral Problems Unsteady gait muscle spasm Crossed eyes (strabismus) fatigue Deteriorating handwriting Another major symptom is Addison’s Disease (Hypoadrenocorticism), which is an endocrine/hormonal disorder of the adrenal glands. Occurs in 90% of Childhood ALD cases. Addison's Disease causes the adrenal glands to fail, in which case they do not make enough cortisol. or gluccorticoid oHelps body respond to stress
oHelps maintain blood pressure, cardiovascular functions
oBalances effects of insulin
oHelps regulate metabolism
oMaintain a mental state of wellbeing Outward Symptoms: weight loss fatigue muscle weakness low blood pressure darkening of skin (2001). What is ALD?. Retrieved February 27, 2010, from The Stop ALD Foundation: http://www.stopald.org/contact_us.asp

(2005). Educational Material. Retrieved February 27, 2010, from The ALD Foundation : http://www.aldfoundation.org/materials.html

(2007). Adrenoleukodystrophy. Retrieved February 27, 2010, from National Center for Biotechnology :

(2009). NINDS Adrenoleukodystrophy Information Page. Retrieved February 27, 2010, from National Institute of Neurological Disorders and Stroke: http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm

(2007). Adreonleukodystrophy. Retrieved February 27, 2010, from United Leukodystrophy Foundation: http://www.ulf.org/types/XALD.html

(2010). Adreonleukodystrophy. Retrieved February 27, 2010, from University of Maryland MEDICAL CENTER: http://www.umm.edu/ency/article/001182all.htm

(2010). ALD and Lorenzo's Oil. Retrieved February 27, 2010, from About.com: Rare Diseases : http://rarediseases.about.com/cs/ald/a/041301.htm (2005). Adrenoleukodystrophy (ALD). Retrieved February 27, 2010, from Kennedy Krieger Institute : http://www.kennedykrieger.org/kki_diag.jsp?pid=1069

(2010). Cerebral X-Linked Adrenoleukodystrophy (ALD) and Transplant. Retrieved February 27, 2010, from National Marrow Donor Program: http://www.marrow.org/PATIENT/Undrstnd_Disease_Treat/Lrn_about_Disease/Metabolic_Storage/ALD_and_Tx/

(2001). Adrenoleukodystrophy. Retrieved February 27, 2010, from The Tyler Medical Clinic: http://www.tylermedicalclinic.com/adrenoleukodystrophy.htm
(2010, February 4). Facts on X-ALD. Retrieved March 1, 2010, from Database X-ALD: http://www.x-ald.nl/facts.htm

(2008, June 27). The Story of Lorenzo Odone:'I can't think of him and not cry.'. The Telegraph . Retrieved March 15, 2010, from http://www.telegraph.co.uk/news/features/3637067/The-story-of-Lorenzo-Odone-I-cant-think-of-him-and-not-cry.html

Kugler, M. (2009, March 17). Lorenzo Odone. Retrieved March 14, 2010, from : http://rarediseases.about.com/od/myelindisorders/p/lorenzoodone.htm Any Questions? Diagnosis Signs of ALD include: Addison’s Disease diagnosed Family history significant medical conditions early morbidity genetic behavioral/development problems sibling with neurological abnormality Rapid changes cognition learning behavior emotional regulation Diagnostic Testing: Blood test Brain MRI analyses amount of VLCFAs in blood shows lesions on brain from destruction of myelin Lorenzo’s Oil Somewhat normalizes fatty acid levels, which stabilizes symptoms to some extent. Made up of Oleic acid and erucic acid (glyceryl trieucate and glyceryl trioleate). Adrenal Hormones Prevents adrenal failure, which is life saving. Injections of adrenal hormones are given at regular intervals (weekly). Stem Cell Transplants Has a high mortality rate, and several other risks. Functioning ALD proteins get to the brain, and express the missing/non-functioning ALD protein. The stem cells are either from umbilical cord blood or bone marrow. Other: Untested Myelin Restoration Mesenchymal Stem Cell Therapy ALDR Upregulation Mueomyster (acetylcysteine) Gene Therapy ALD Patient If a woman is born with an abnormal X chromosome from her mother, she has a normal copy from her father, which makes up for abnormal copy. A man, who received a Y-chromosome from his father, did not receive a normal copy of the X-chromosome. Prevention Immediate and extended family of ALD patients should be screened. DNA blood tests can identify carriers.40% of carriers of the mutation exhibit neurological symptoms reminiscent of ALD. There is a 25% chance that a carrier of the mutation will have a child with ALD. ALD is an X-linked genetic disease. Therefore the mother always passes on the gene. This also explains why men only get the disease. Genetic counseling is recommended for families with a history of ALD in their family to determine if their children will have ALD. Lorenzo Odone May 29, 1978 Lorenzo Odone was born to Michaela and Augusto Odone. The first few years of his life were like any others’, but by the time he was of school age he began to show signs of a damaged nervous system, and in 1984, at age 6, he was diagnosed with ALD. At the time there was no cure, no hope for him. His parents were devastated, but determined. Despite having no medical background, they researched a possible cure, and invented Lorenzo’s Oil one of the few treatments in existence today. However, by the age of 7 Lorenzo was completely disabled: bedridden and unable to communicate. His parents and siblings were dedicated to caring for him themselves. “The worst bit was the steady deterioration. We had to pad the walls of the house so he would not hurt himself. He kept falling down. Then he could not throw a ball or kick it... We just tried, every day, to do our best for him, to keep him comfortable. We loved him. We really did.” –Augusto Odone He died on May 30, 2008, one day after his 30th birthday. He lived 22 years longer than doctors had ever hoped he would. Available Treatments The life of Lorenzo Odone, and his family, is just one example of the tragic effects of Adrenoleukodystropy.
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