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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 .
[4] [5] PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and ...
Zellweger syndrome; Zieve's syndrome; Zimmermann–Laband syndrome; Zollinger–Ellison syndrome; Zori–Stalker–Williams syndrome This page was last edited on 1 ...
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.
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]
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.
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 ().