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X-linked ALD is caused by defects in the ABCD1 gene, also known as the ALDP (ALD protein) gene
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∙ 13y ago
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Where exactly is adrenoleukodystrophy on the x chromosome?
The specific location of the mutation that causes X-ALD is on the ABCD1 gene on the X-chromosome. Please note that there isn't a specific mutation in the ABCD1 gene that causes X-ALD or can be related in any way to the different clinical presentations of the disease.
What is the most severe form of adrenoleukodystrophy?
The most severe form of ALD is called childhood ALD. About 35% of people with ALD have this type. These children usually have normal development in the first few years of life.
What disorders besides Zellweger syndrome involve defects in the cytoplasm organelles of cells called the peroxisomes?
Neonatal adrenoleukodystrophy , infantile Refsum disease , and hyperpipecolic acidemia involve defects in the cytoplasm organelles of cells called the peroxisomes
What is the genotype of an ALD boy?
The genotype of an ALD (adrenoleukodystrophy) boy is typically X-linked recessive. This means that the boy has a mutation on the X chromosome, which is responsible for the development of the disease. Typically, the genotype is represented as XL for an affected boy.
What is myelin and how does ALD affect it?
To explain it in the simplest way i can think of, explained by a doctor in the Academy Award Winning movie Lorenzo's Oil, Myelin is like the rubber part on an electrical cord that gives it energy in some way (not sure how) and ALD or Adrenoleukodystrophy, affects it by eroding that part of it. I'm not sure though how this affects the bodies brain functions.
What is the type of mutation that causes Adrenoleukodystrophy?
deletion
What gene carries Adrenoleukodystrophy?
The United Leukodystrophy Foundation (see related links) mentions an x-linked adrenoleukodystrophy, as well as other adrenoleukodystrophies that have multiple possible genetic causes.
What is adrenoleukodystrophy?
Adrenoleukodystrophy is a degenerative genetic disease in which myelin is lost from nerve cells in the brain.
When was adrenoleukodystrophy discovered?
1992
What percentage of people who have adrenoleukodystrophy?
3
Who discovered adrenoleukodystrophy?
It was discovered by Haperfield and Spieler. ;)
How do you spell adrenoleukodystrophy?
That is the correct spelling of "adrenoleukodystrophy" (also called Siemerling-Creutzfeldt Disease and adrenomyeloneuropathy) a disorder affecting myelin sheaths in the nervous system.
How is adrenoleukodystrophy inherited?
It is an X-linked recessive disorder.
What is the average age you can live if diagnosed with Adrenoleukodystrophy?
10
What percentage of the population have Adrenoleukodystrophy?
10 billion percent!!
What gene is Adrenoleukodystrophy on?
it is x linked an dpass down by the mother
Population statistics for adrenoleukodystrophy?
It affects 1 in 20,000 men
