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What else can I help you with?
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 adrenoleukodystrophy is known as cerebral adrenoleukodystrophy (CALD). This form primarily affects the brain and progresses rapidly, leading to severe neurological symptoms such as loss of cognitive function, movement disorders, and ultimately disability or death. Early detection and treatment are critical in managing CALD.
What type of mutation occurs in adrenoleukodystrophy?
Adrenoleukodystrophy (ALD) is primarily caused by a mutation in the ABCD1 gene, which encodes a protein involved in the transport of very long-chain fatty acids (VLCFAs) into peroxisomes. This mutation typically results in a loss of function of the ABCD1 protein, leading to the accumulation of VLCFAs in the body. The genetic mutation is inherited in an X-linked recessive manner, meaning it predominantly affects males, while female carriers may exhibit milder symptoms.
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 was the contribution of the article by the polished chemists and where did it leave the Odones?
The article by the polished chemists highlighted the successful treatment of adrenoleukodystrophy (ALD) using Lorenzo's oil. This left the Odones feeling marginalized and disheartened, as their years of research and advocacy were not fully acknowledged in the article.
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.
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.
What percentage of the population have Adrenoleukodystrophy?
10 billion percent!!
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 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
Are there any famous with adrenoleukodystrophy?
Osama Bin-Laden and J.F.K.
