Zellweger Syndrome: Difference between revisions
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== Introduction == | == Introduction == | ||
'''Zellweger syndrome''' is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual.<ref>Brul S, Westerveld A, Strijland A, Wanders RJ, Schram AW, Heymans HS, Schutgens RB, Van Den Bosch H, Tager JM. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC442615/ Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.] The Journal of clinical investigation. 1988 Jun 1;81(6):1710-5.</ref> It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies. Zellweger syndrome is named after Hans Zellweger (1909–1990), a Swiss-American pediatrician, a professor of pediatrics and genetics at the University of Iowa who researched this disorder. | |||
Zellweger spectrum disorder, also known as cerebrohepatorenal syndrome, is a rare inherited disorder characterized by the absence/reduction of functional peroxisomes in cells, which are essential for beta-oxidation of very long-chain fatty acids. It is autosomal recessive in inheritance, and the spectrum of the disease includes Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata type 1 (RCDP1) depending on the phenotype and severity.<ref>Powers JM, Tummons RC, Caviness Jr VS, Moser AB, Moser HW. [https://pubmed.ncbi.nlm.nih.gov/2703857/ Structural and chemical alterations in the cerebral maldevelopment of fetal cerebro-hepato-renal (Zellweger) syndrome.] Journal of Neuropathology & Experimental Neurology. 1989 May 1;48(3):270-89.</ref> | |||
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Introduction[edit | edit source]
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 syndrome is named after Hans Zellweger (1909–1990), a Swiss-American pediatrician, a professor of pediatrics and genetics at the University of Iowa who researched this disorder.
Zellweger spectrum disorder, also known as cerebrohepatorenal syndrome, is a rare inherited disorder characterized by the absence/reduction of functional peroxisomes in cells, which are essential for beta-oxidation of very long-chain fatty acids. It is autosomal recessive in inheritance, and the spectrum of the disease includes Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata type 1 (RCDP1) depending on the phenotype and severity.[2]
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References[edit | edit source]
- ↑ Brul S, Westerveld A, Strijland A, Wanders RJ, Schram AW, Heymans HS, Schutgens RB, Van Den Bosch H, Tager JM. Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. The Journal of clinical investigation. 1988 Jun 1;81(6):1710-5.
- ↑ Powers JM, Tummons RC, Caviness Jr VS, Moser AB, Moser HW. Structural and chemical alterations in the cerebral maldevelopment of fetal cerebro-hepato-renal (Zellweger) syndrome. Journal of Neuropathology & Experimental Neurology. 1989 May 1;48(3):270-89.
