zellweger syndrome การใช้

• Zellweger syndrome can also affect the function of many other organ systems.
• A mutation in this gene results in one form of Zellweger syndrome.
• Zellweger syndrome is associated with impaired neuronal migration, neuronal positioning, and brain development.
• Certain peroxisomal disorders, such as adrenoleukodystrophy and Zellweger syndrome, can be associated with an accumulation of VLCFAs.
• This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis.
• Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome.
• Two other children died during infancy ( Adam, 1983; Grace, 1992 ) from a rare genetic disorder known as Zellweger syndrome.
• Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome.
• In addition, individuals with Zellweger syndrome can show a reduction in central nervous system ( CNS ) myelin ( particularly cerebral ), which is referred to as hypomyelination.
• This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis.
• Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia ( RDPA ), as well as other peroxisomal disorders, including both adult Refsum disease, and Zellweger syndrome.
• Cholic acid, formulated as Cholbam capsules, is approved by the United States Food and Drug Administration as a treatment for children and adults with bile acid synthesis disorders due to single enzyme defects, and for peroxisomal disorders ( such as Zellweger syndrome ).
• An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD / CG9 . Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis.
• Moreover, due to its function as an intermediate in myelin biosynthesis, dietary therapy with nervonic acid-containing fats has been studied : nervonic acid appears to be beneficial for the treatment of genetic disorders of the lipid metabolism, such as Zellweger syndrome or adrenoleukodistrophy.
• Collectively, the organization says, there are more than 6, 000 orphan diseases, from Adams-Oliver Syndrome ( malformed arms and legs ) to Zellweger Syndrome ( high iron and copper levels in infant blood ) affecting about 25 million Americans . _ _ _=
• Thirteen other syndromes may exhibit signs similar to Usher syndrome, including Alport syndrome, Alstrom syndrome, Bardet-Biedl syndrome, Cockayne syndrome, spondyloepiphyseal dysplasia congenita, Flynn-Aird syndrome, Friedreich ataxia, Hurler syndrome ( MPS-1 ), Kearns-Sayre syndrome ( CPEO ), Norrie syndrome, osteopetrosis ( Albers-Schonberg disease ), Refsum's disease ( phytanic acid storage disease ), and Zellweger syndrome ( cerebrohepatorenal syndrome ).