Zellweger
Syndrome
Zellweger
Syndrome is one of a group of four diseases referred as “Peroxisome Biogenesis
Disorders (PBD), an inherited condition that damages the white matter of the
person’s brain. It is caused by defects in any of the 13 PEX genes, required
for normal formation and function of peroxisomes – a cell structure that breaks
down toxic substances and synthesize lipids necessary for cell function.
Symptoms
–
It
includes enlarged liver, intellectual disability, characteristic facial
features, vision disturbances, lack of muscle tone, gastrointestinal bleeding.
Treatment
–
There is
no cure for this syndrome. Majority of the infants fail to survive past the six
months and often do not live more than a year. The available treatment options
are only supportive and symptomatic.
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