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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.
X-linked Opitz G/BBB syndrome XLP syndrome X-linked lymphoproliferative syndrome (see Duncan Disease) XLSA X-linked sideroblastic anemia: XMEA X-linked myopathy with excessive autophagy: XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia XP Xeroderma pigmentosa: XSCID X-linked severe combined ...
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]
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. [1] The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others ().
The other two disorders are Zellweger syndrome (ZS) and neonatal adrenoleukodystrophy (NALD). [7] [8] Although they share a similar molecular basis for disease, Infantile Refsum disease is less severe than Zellweger syndrome. [9] Infantile Refsum disease is a developmental brain disorder. [6]
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]