Search results
Results from the WOW.Com Content Network
This genetic disorder article is a stub. You can help Wikipedia by expanding it.
Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by failure of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body.
Both parents will have to have the recessive gene for the child to show symptoms. If one parent has the gene and the other one does not, the child will be a carrier and will not show symptoms. Any mutation involving the genes that create or work the peroxisomes can lead to the development of any of the Zellweger Spectrum Disorders.
The difference between dominant and recessive inheritance patterns also plays a role in determining the chances of a child inheriting an X-linked disorder from their parentage. [citation needed] X-linked dominant disorders tend to affect females more often because they tend to be developmentally fatal in males.
Medical genetics Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. [ 1 ] This may be due to defects in single enzymes [ 2 ] important for peroxisome function or in peroxins , proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.
While all leukodystrophies are the result of genetic mutations, [3] other demyelinating disorders have an autoimmune, infectious, or metabolic etiology. [4] When damage occurs to white matter, subsequent immune responses can lead to inflammation in the central nervous system (CNS), along with the loss of myelin.
The other two disorders are neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). [5] [6] Although all have a similar molecular basis for disease, Zellweger syndrome is the most severe of these three disorders. [7] Zellweger syndrome is associated with impaired neuronal migration, neuronal positioning, and brain development. [4]
Unlike many other types of intellectual disability, the genetics of these conditions are relatively well understood. [ 2 ] [ 3 ] It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified. [ 4 ]