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What Is It?

Zellweger Syndrome is related to Peroxisome Biogenesis

Disorder (PBD), which is part of a larger group of diseases

called the leukodystrophies. These are inherited conditions

that damage the white matter of the brain and also affect

how the body metabolizes particular substances in the blood

and organ tissues. It is the most severe of the PBDs.


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Diagnosis

Prenatal diagnosis is achieved via CVS (chorionic villus

sampling), an invasive procedure done in early pregnancythat removes a tiny piece of the placenta, and

amniocentesis. Determining the amount of peroxisomes via

a liver biopsy is considered an essential part of diagnosis.

Blood tests that indicate high levels of various organiccompounds in the blood can also confirm the diagnosis.


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Causes

Defects in any one of the 13 genes

Termed PEX genes (PEX genes are required for

the normal formation and function of

peroxisomes)

Dysfunctional lipid metabolism Defects of the bile acids and plasmalogens

Lack in, or absence of, peroxisomes


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Physical Symptoms

Defects in the face, development, or eyes

Up slanting eyes

High forehead

Skin folds along the persons nasal borders of the

space between the upper and lower eyelids of their

eyes

Loss of muscle tone/extreme weakness

Seizure activity

Jaundice


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Internal Symptoms

Enlarged liver

Increased levels of copper and iron in the blood

Inability to move

Intellectual disability

Gastrointestinal bleeding Prenatal growth failure

The liver on

the left isnormal.

The liver on

the right is

enlarged.


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Treatments

There is no cure for Zellweger Syndrome, or a common

treatment. The metabolic and neurological symptoms of

this disease are formed during the fetal development.

Treatments are limited, and most are symptomatic and

supportive.

A is a normal brain. B is a brain with Zellweger Syndrome.


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Prognosis

There is no real prognosis for Zellweger Syndrome. Most

infants do not survive the first 6 months of life, and usually

fall into respiratory distress, gastrointestinal bleeding, or

liver failure.


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Bibliography "NINDS Zellweger Syndrome Information Page."Zellweger

Syndrome Information Page: National Institute of Neurological

Disorders and Stroke (NINDS). National Institute of Neurological

Disorders and Stroke, 27 Sept. 2011. Web. 17 Oct. 2012.

.

Weiss, Thomas C. "Zellweger Syndrome - Facts and

Information." Disabled World. Disabled World, 13 Mar. 2012. Web.17 Oct. 2012. .

Honor Society of Nursing. "How Is Zellweger Syndrome Diagnosed?"

Sharecare. Sharecare, n.d. Web. 22 Oct. 2012.

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