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Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. [1] It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies .
Zellweger spectrum disorders are a group of rare disorders that create the same disease process. [1] The subdivisions of this spectrum are hyperpipecolic acidemia , infantile Refsum disease , neonatal adrenoleukodystrophy , and Zellweger syndrome .
Hans Ulrich Zellweger (19 June 1909, in Lugano – 24 February 1990, in Iowa City, Iowa) was a Swiss-American pediatrician known for his research on Zellweger syndrome. [ 1 ] [ 2 ] Zellweger trained in Zurich, Hamburg, Rome and Berlin and received his doctorate in Zurich in 1934, where he worked until 1950.
Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by abnormally short arms and legs (), seizures, recurrent respiratory tract infections and congenital cataracts.
There is some evidence from humans and animals that there are reduced levels of plasmalogens in the brain in neurodegenerative disorders including Alzheimer disease, Parkinson's disease, Niemann–Pick disease, type C, Down syndrome, and multiple sclerosis, it is not clear if this is causal or correlative. [20]
Peroxisomes contain many different enzymes, such as catalase, and their main function is to neutralize free radicals and detoxify drugs. For this reason peroxisomes are ubiquitous in the liver and kidney. D-BP deficiency is the most severe peroxisomal disorder, [1] often resembling Zellweger syndrome. [2]
Infantile Refsum disease (IRD) is a rare autosomal recessive [2] congenital peroxisomal biogenesis disorder within the Zellweger spectrum.These are disorders of the peroxisomes that are clinically similar to Zellweger syndrome and associated with mutations in the PEX family of genes.
It is part of the Zellweger spectrum. It has been linked with multiple genes (at least five) associated with peroxisome biogenesis and has an autosomal recessive pattern of inheritance. [ 2 ]