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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 .
Zellweger syndrome; Zieve's syndrome; Zimmermann–Laband syndrome; Zollinger–Ellison syndrome; Zori–Stalker–Williams syndrome This page was last edited on 1 ...
[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 ...
Lesch–Nyhan syndrome; AMPD1 Deficiency (MADD) Disorders of steroid metabolism lipoid congenital adrenal hyperplasia; congenital adrenal hyperplasia; Disorders of mitochondrial function Kearns–Sayre syndrome; Disorders of peroxisomal function Zellweger syndrome; Lysosomal storage disorders. Gaucher's disease; Niemann–Pick disease
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]
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] Characteristics of the disorder include neonatal hypotonia and seizures, occurring mostly within the first month of life, as well as visual and hearing impairment. [3]
This is a list of major and frequently observed neurological disorders (e.g., Alzheimer's disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various disorders and whether some of these conditions should be classified as ...