Zellweger+Syndrome

Description:

 * Neonatal disease
 * affects infants and usually results in death
 * unusual problems in prenatal development, an enlarged liver, high levels of iron and copper in blood, and vision disturbances are among major manifestations of the Zellweger syndrome.
 * ====== Zellweger is one of a group of four related diseases called peroxisome biogenesis disorders (PBD) which are part of a larger group of diseases known as the leukodistrophies ======
 * There is a yeast homolog to human PXR1, which should allow powerful molecular genetic techniques to be used in the investigation of the normal role of peroxisomes in cells, as well as the molecular events that occur in disease states
 * The PXR1 receptor is vital for the import of these enzymes into the peroxisomes: without it functioning properly, the peroxisomes can not use the enzymes to carry out their important functions, such as cellular lipid metabolism and metabolic oxidations.
 * ===== Zellweger syndrome, also called cerebrohepatorenal syndrome is a rare,congential disorder, characterized by the reduction or absence of functional peroxisomes in the cells of an individual. =====
 * ===== It is one of a family of disorders called leukodistrophies. =====
 * Zellweger syndrome is named after Hans Zellweger, a former professor of pediatrics and genetics at the University of Iowa who researched this disorder.
 * In almost all cases, patients have mutations that inactivate or greatly reduce the activity of both the maternal and paternal copies of one these aforementioned PEX genes.
 *  ZELLWEGER SYNDROME is a rare hereditary disorder affecting infants, and usually results in death

Chromosome location:
The PXR1 gene has been mapped to chromosome 12; mutations in this gene cause Zellweger syndrome. The PXR1 gene product is a receptor found on the surface of peroxisomes - microbodies found in animal cells, especially liver, kidney and brain cells. The function of peroxisomes is not fully understood, although the enzymes they contain carry out a number of metabolically important reactions. The PXR1 receptor is vital for the import of these enzymes into the peroxisomes: without it functioning properly, the peroxisomes can not use the enzymes to carry out their important functions, such as cellular lipid metabolism and metabolic oxidations **The PXR1 gene has been mapped to chromosome 12; mutations in this gene cause Zellweger syndrome. The PXR1 gene product is a receptor found on the surface of peroxisomes - microbodies found in animal cells, especially liver, kidney and brain cells.**

Treatment:

There is no cure for Zellweger syndrome or a standard course of treatment. Since the metabolic and neurological abnormalities that cause the symptoms of Zellweger syndrome are caused during fetal development, there aren't many treatments to correct these abnormalities. Most treatments are symptomatic and supportive. Treatment of Zellweger syndrome is primarily symptomatic and supportive. Infections should be guarded against carefully to delay complications, and Vitamin K may be needed to avoid abnormal bleeding. Experimental therapies with docosahexaenoic acid (DHA) are being studied. DHA is an essential fatty acid, which is deficient in patients with Zellweger syndrome. Improvement has been reported in some patients. Another approach being tested is the administration of bile acids, such as cholic acid or chenodeoxycholic acid, which may be of help in respect to liver function.

Life Expectancy:

The prognosis for infants with Zellweger syndrome is poor. Most infants do not survive past the first 6 months, and usually succumb to respiratory distress, gastrointestinal bleeding, or liver failure. This disease ussually results in infants so they don't live within the first few years of life, or the first few months.

Support Organizations:

The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as Zellweger syndrome.  **Zellweger Baby Support Network.** This organization was started by a small group of parents whose lives have been affected in some way by a rare disorder. [|www.zbsn.org/]   []

~ Hannah ﻿S. ﻿~Lauren G.