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Encyclopedia > 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. 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. A congenital disorder is a medical condition that is present at birth. ... Peroxisomes are ubiquitous organelles in eukaryotes. ... The liver is an organ in vertebrates including humans. ... Kidneys viewed from behind with spine removed The kidneys are bean-shaped excretory organs in vertebrates. ... In the anatomy of animals, the brain, or encephalon, is the supervisory center of the nervous system. ... A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. ... In neuroscience, myelin is an electrically insulating fatty layer that surrounds the axons of many neurons, especially those in the peripheral nervous system. ... Muscle tone is the continuous and passive partial contraction of the muscles. ... Mental retardation (also called mental handicap and the UK Mental Health Act (1983) defines mental impairment and severe mental impairment) is a term for a pattern of persistently slow learning of basic motor and language skills (milestones) during childhood, and a significantly below-normal intellectual capacity as an adult. ... Jaundice, technically known as icterus, is yellowing of the skin, sclera (eyes) and mucous membranes caused by increased levels of bilirubin in the system. ... Gastrointestinal bleeding describes every form of hemorrhage (blood loss) in the gastrointestinal tract, from the pharynx to the rectum. ...


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 pneumonia and 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. Pneumonia (the ancient Greek word for lungs) is defined as an inflamation, usually caused by infection, involving the alveoli of the lungs. ...

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

  Results from FactBites:
 
Zellweger Syndrome Information Page: National Institute of Neurological Disorders and Stroke (NINDS) (521 words)
Zellweger syndrome 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 leukodystrophies.
Infants with Zellweger syndrome also lack muscle tone, sometimes to the point of being unable to move, and may not be able to suck or swallow.
The prognosis for infants with Zellweger syndrome is poor.
CIGNA - Zellweger Syndrome (1457 words)
Zellweger syndrome is a rare, hereditary disorder characterized by a deficiency or absence of peroxisomes in the cells of the liver, kidneys, and brain.
Zellweger syndrome is one of a group of genetic disorders known as leukodystrophies that affect growth of the myelin sheath, which lines nerve fibers in the brain and speeds the conduction of nerve impulses.
Zellweger syndrome is inherited as an autosomal recessive trait.
  More results at FactBites »


 

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