adrenoleukodystrophy
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Our Group's topic is a NEUROLOGICAL DISORDER called * take a deep breath* ADRENOLEUKODYSTROPHY. Its a very very rare inherited
neurological disorder.
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Adrenoleukodystrophy
A (really really) short introduction
- also known as Schilder's Disease and Sudanophilic Leukodystrophy
- is a rare inherited disorder that leads to progressive brain damage, failure of the adrenal gland and eventually death
- belongs to a group of inherited disorders called Leukodystrophies
- its damages the myelin which insulates many nerves of the central and peripheral nervous systems
- An essential protein, called a transporter protein, is missing in sufferers
- protein is needed to carry an enzyme which is used to break down long chain fatty acids found in our diet
- victims of ALD are nearly always male
- several different types of the disease can be inherited in two different ways
- It is more commonly inherited as an X-linked condition.
- Leukodystrophies are different from demyelinating disorders such as multiple sclerosis where myelin is formed normally but
is lost by immunologic dysfunction or for other reasons
Symptoms
childhood cerebral form
- occurs in males between the ages of 4 and 10
- can also occur in adolescents
- very rarely in adults
- symptoms: failure to develop
- seizures
- ataxia (dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum)
- adrenal insufficiency
- degeneration of visual
- degeneration of auditory function
Another form of ALD- adrenomyeloneuropathy, or "AMN"
- primarily strikes young men
- prominent spinal cord dysfunction
- usually present with weakness and numbness of the limbs
- urination or defecation problems
* Most victims of this form are also males, although some female carriers exhibit symptoms similar to AMN
Adult and neonatal form
- affect both males and females
- inherited in an autosomal recessive manner
- extremely rare
- adrenal insufficiency (Addison's disease)*
- uncontrollable rage ( only in some cases)
* Addison's disease: a rare endocrine disorder in which the adrenal gland produces insufficient amounts of steroid hormones
Diagnosis
-established by clinical findings and detection of serum long chain fatty acid levels
- MRI examination reveals white matter abnormalities
- neuroimaging findings are quite reminiscent of the findings of multiple sclerosis
- Genetic testing for the analysis of the defective gene
Saturday, March 8, 2008
11:47 PM
After reading yi'an post, i decided to do up a small research on Lorenzo's Oil, the make up of it, etc. and here are my findings!
Lorenzo's oil is...
- a 4:1 mixture of glycerol trioleate(C57H104O6) and glycerol trierucate*
- formulated by Augusto and Michaela Odone after their son Lorenzo was diagnosed with the disease
- competitively inhibits the enzyme that forms VLCFAs**
- very expensive
*the triglyceride forms of oleic and erucic acid
** Very Long Chain Fatty Acids
erucic acid(C22H42O2):a monounsaturated omega-9 fatty acid, denoted 22:1 ω-9,is prevalent in rapeseed, wallflower seed, and mustard seed
oleic acid (C18H34O2): a monounsaturated omega-9 fatty acid; saturated form of this acid is stearic acid
then, i shall move on to Facts on X-Linked Adrenoleukodystrophy (X-ALD):
- a peroxisomal storage disease whereby abnormal function of peroxisomes leads to the accumulation of very long-chain fatty acids (VLCFA) in tissues of the body, especially the brain and the adrenal glands.
- myelin sheath surrounding the nerves is destroyed causing neurologic problems, and the adrenal gland malfunction causes Addison's Disease**.
-reaction normally takes place in a part of the cell, which is referred to as the peroxisome
- All cells of the body, except red blood cells, have peroxisomes.Patients with X-ALD lack one of the proteins required for this degradation to take place. The protein that is missing or defective is called ALDP (X-ALD protein)
Photo of a human skin cell. The cell is stained with a dye that recognizes peroxisomes, they are indicated as the small white dots. In a normal situation, VLCFAs are degraded in peroxisomes. In X-ALD, however, the VLCFAs can not enter the peroxisomes and their concentration builds up in the cell.
X-ALD is an X-linked disorder, which means it affects only males and is transmitted by a female carrier. Such disorders are referred to as "X-linked" since the genetic abnormality involves the X-chromosome. Women have two X-chromosomes, men only one. In women, the affected X-chromosome, the one with the gene for X-ALD (Figure 2, red chromosome), does not manifest because of the presence of a normal copy of the gene (black chromosome) on the other X-chromosome. Men have one X-chromosome and one Y-chromosome. In men who have an X- chromosome for X-ALD, there is no other X- chromosome for protection, therefore symptoms may be seen in the male.
**Addison's disease:also known as chronic adrenal insufficiency, hypocortisolism or hypocorticism) is a rare endocrine disorder in which the adrenal gland produces insufficient amounts of steroid hormones (glucocorticoids and often mineralocorticoids).
-xiaoxuan(:
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