Gourt > Health > Conditions and Diseases > Genetic Disorders > Zellweger Syndrome
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-oxidize very-long chain fatty acids in the peroxisomes of the cell, due to a genetic disorder in one of the several genes involved with peroxisome biogenesis. Named after Hans Zellweger, a former professor of Pediatrics and Genetics at the University of Iowa who did research into the disease, it is also called cerebrohepatorenal syndrome.
Very long chain fatty acids are generally found in the central nervous system (brain and spinal cord) and the peroxisomes of these cells cannot import the necessary degrative proteins for B-oxidation to occur. Zellweger syndrome is one of a group of genetic disorders called peroxisomal diseases that affect brain development and the growth of the myelin sheath, the fatty covering—which acts as an insulator—on nerve fibers in the brain.
The 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 tone and an inability to move. Other symptoms may include unusual facial characteristics, mental retardation, seizures, and an inability to suck and/or swallow. Jaundice and gastrointestinal bleeding may also occur.
More on [ Zellweger syndrome ]
Liver :: Digestive Disorders
Genitourinary Disorders
Brain Diseases
Nutrition and Metabolism Disorders
Rare Disorders :: Conditions and Diseases
@angelinadarling it's the Renee Zellweger syndrome.
jolina (Jolina Hoang) Sun, 08 Nov 2009 23:07:22 -0000
@angelinadarling it's the Renee Zellweger syndrome.
Justin Comeau - A personal page about a little boy who has Zellweger syndrome. Offers family pictures, information about the disease and the personal story of Justin.
MCW Healthlink - An article about Zellweger syndrome, explaining what it is, the symptoms and prognosis.
Meta Description: [ Zellweger syndrome is a rare, birth disorder 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. ]
NORD: Zellweger Syndrome - Offers alternate names, a general discussion and resources.
Meta Description: [ National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. ]
Zellweger Syndrome - Information page compiled by NINDS, the National Institute of Neurological Disorders and Stroke.
Meta Description: [ Zellweger syndrome information page compiled by NINDS, the National Institute of Neurological Disorders and Stroke. ]
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