X-linked adrenoleukodystrophy
In X-linked adrenoleukodystrophy (X-ALD), a mutation occurs in the peroxisomal ATP-binding cassette (ABC transporter). This leads to cerebral inflammatory demyelination caused by the myelin destabilization that occurs in these patients. The inflammatory demyelination begins in the corpus callosum and it slowly progresses outwards towards both hemispheres. In X-ALD patients, abnormally high levels of very long chain fatty acid (VLCFA) accumulate in various body tissues and fluids. This increased concentration then incorporates into various complex lipids where they are not normally found. This has been found to be directly involved in the cerebral inflammation. The accumulated and embedded VLCFA in the complex lipids could lead to the destabilization of myelin sheath and eventually to demyelination. Alexander disease
Alexander disease is unique from the leukodystrophies mentioned above in that it is the result of spontaneous mutation, that is it is not inherited. This means that the mutation found in the affected individual is not found in either of his or her parents. It is due to the accumulation of Glial fibrillary acidic protein (GFAP) as the result of a mutation in the GFAP gene; which, rather than being found in association with lysosomes or peroxisomes, is an intermediate filament linked to the nuclear envelope. Intermediate filaments are proteins responsible for the makeup of the cellular cytoskeleton, and thus this type of mutation is involved in malfunctioning structural development of the cells. In fact, cytoskeletal and transporter molecule defects have been observed in the astrocytes (type of glial cell) of affected individuals.
Sodium phenylacetate/sodium benzoate, sold under the brand name Ammonul among others, is a combination medication used to treat high blood ammonia. It is a combination of sodium phenylacetate and sodium benzoate. References
External links
"Ammonul". Drug Information Portal. U.S. National Library of Medicine.