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Zellweger's syndrome

**{{{Name|Zellweger's syndrome}}}**
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ICD-10	Q87.8
ICD-O:	{{{ICDO}}}
ICD-9	277.86, 759.8
OMIM	}}}
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Zellweger syndrome is a rare, congenital disorder(present at birth), characterized by the reduction or absence of peroxisomes(cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. It is characterized by an individual's inability to beta-oxidizevery-long chain fatty acidsin the peroxisomesof the cell, due to a genetic disorderin the PEX2 gene. Named after Hans Zellweger, a former professor of Pediatricsand Geneticsat the University of Iowawho did research into the disease, it is also called cerebrohepatorenal syndrome.

VL chain fatty acids are generally found in the central nervous system(brainand spinal cord) and the peroxisomesof these cells cannot import the necessary degrative proteinsfor B-oxidation to occur. Zellweger syndrome is one of a group of genetic disorderscalled peroxisomal diseases that affect brain development and the growth of the myelinsheath, the fatty covering—which acts as an insulator—on nerve fibers in the brain.

Symptomsare often exhibited at around 1 to 2 years of age. If left untreated Zellweger's syndrome can lead to major mental retardationand death. The other most common features of Zellweger syndrome include an enlarged liver, high levels of iron and copper in the blood, and vision disturbances. Some affected infants may show prenatal growth failure. Symptoms at birth may include lack of muscle toneand an inability to move. Other symptoms may include unusual facial characteristics, mental retardation, seizures, and an inability to suck and/or swallow. Jaundiceand gastrointestinal bleedingmay also occur.

There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Infections should be guarded against to prevent such complications as pneumoniaand respiratory distress. Other treatment is symptomatic and supportive. The prognosis for individuals with Zellweger syndrome is poor. Death usually occurs within 6 months after onset, and may be caused by respiratory distress, gastrointestinal bleeding, or liver failure.

Source

Based on http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm

External links

OMIM214100de:Zellweger-Syndrom

fr:Syndrome de Zellweger

Retrieved from "http://en.wikipedia.org/Zellweger%27s_syndrome"

Categories: Eponymous diseases| Urology| Inborn errors of metabolism| Leukodystrophies

This article is licensed under the GNU Free Documentation License.
It uses material from the http://en.wikipedia.org/wiki/Zellweger%27s+syndrome Wikipedia article Zellweger's syndrome.

All text is available under the terms of the GNU Free Documentation License