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What organelle does Zellweger syndrome affect?
Zellweger syndrome affects the peroxisomes, which are membrane-bound organelles responsible for various metabolic processes such as lipid breakdown and detoxification. In individuals with this syndrome, peroxisomes are unable to function properly, leading to a buildup of toxic substances in the body.
What is the age of the oldest person with Edwards syndrome?
Actually there is a story I read saying...21 years ago my sister was born with Edwards Syndrome or Complete Trisomy 18.The doctors told my parents that helping this baby is a lost cause and she will only live for a month. My parents refused to give up and not help her.My sister turned 21 on Sunday. She is the oldest living person with Complete Trisomy 18.A parent's love GMH.Comments on #60556 (5)May 26, 2010 12:00 AM by Cody P, Crown Point, IN - Inspiring featsShare1065
Who is the oldest person in Britain?
As of my last update, the oldest person in Britain is Joan Hocquard, who was born on March 29, 1908.
Is sweets syndrome contagious?
No, Sweet's syndrome is not contagious. It is a rare condition characterized by a skin rash and fever that is not caused by an infection or transmitted from person to person. It is believed to be triggered by an abnormal immune response.
How long does stickler syndrome last?
Stickler syndrome is a genetic disorder that is present from birth and persists throughout a person's life. The symptoms and severity of the condition can vary widely among individuals, but the genetic mutation that causes Stickler syndrome is lifelong. Treatment is focused on managing symptoms and complications associated with the syndrome.
Is Zellweger syndrome dominant or recessive?
Zellweger syndrome is autosomal recessive.
Can you get it from something or someone zellweger syndrome?
disease you can get from another person or animal
How may Zellweger syndrome be said to be a common condition?
The incidence of Zellweger syndrome worldwide is roughly one in 100,000 births.
What is the treatment for Zellweger syndrome?
There is no cure for Zellweger syndrome and treatment is based solely on lessening the symptoms and supporting the involved organs.
Which chromosomes are affected by Zellweger syndrome?
all of them
How is Zellweger syndrome manifest in babies?
Typically, babies with Zellweger syndrome have severe weakness, hyptonia (loss of muscle tone), and often have neonatal seizures
What causes zellweger syndrome?
Zellweger syndrome is caused by mutations in any one of at least 12 genes ; mutations in the PEX1 gene are the most common cause. It is inherited in an autosomal recessive manner. There is no cure for Zellweger syndrome; treatment is generally symptomatic and supportive.
What skin cell abnormalities are observed in patients with Zellweger syndrome?
in Zellweger syndrome, these cells appear to have ghost-like peroxisomes, which are caused by an absence of specific proteins inside the organelles that are recruited into the membranes.
What is zellweger syndrome?
From wikipedia.com Zellweger syndrome, also called cerebrohepatorenal 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.
How is Zellweger syndrome diagnosed?
Zellweger syndrome is diagnosed by measuring metabolic compounds in blood samples from patients. Various fatty acids, plasmalogens, pipecolic acid, and bile acid intermediates are usually studied
How is Zellweger syndrome caused?
Zellweger syndrome is caused by mutations in genes that are involved in the formation of peroxisomes, which are cell structures responsible for breaking down fatty acids. These mutations lead to the absence or dysfunction of peroxisomes in cells, resulting in the accumulation of toxic substances and causing the characteristic symptoms of the syndrome.
What percentage of the population suffers from Zellweger syndrome?
Zellweger syndrome is a rare genetic disorder with an estimated prevalence of 1 in 50,000 to 1 in 100,000 births. This translates to less than 0.001% of the population being affected by Zellweger syndrome.
