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Zellweger's syndrome explained
Zellweger Syndrome is a rare hereditary disorder affecting peroxisome biogenesis, leading to the accumulation of long-chain fatty acids and impairing brain and organ development. It is inherited in an autosomal recessive manner, most commonly caused by mutations in the PEX1 gene, and affects 1 in 50,000 individuals, often resulting in early mortality. Currently, there is no cure, and treatment focuses on providing supportive and symptomatic care.
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Zellweger's syndrome explained
- 1. Zellweger Syndrome “Cerebrohepatorenal Syndromes” Arare hereditary disorder; tertiary in the Zellweger Spectrum
- 2. Zellweger's or ZSis a Peroxisome biogenesis disorder meaning there is a mutation in the amount of peroxisomes that will break down lipids, and contribute to the production of Myelin. Most people with Zellweger’s have long chains of fat in their blood. Peroxisomes are cell structures that break down toxic substances and form lipids (fatty acids. oils, and waxes) that are necessary for cell function. Peroxisomes are required for normal brain development and function and the formation of myelin, the whitish substance that coats nerve fibers. They are also required for normal eye, liver, kidney, and bone functions. What is Zellweger’s Syndrome?
- 3. What cause it? Ifyou are born to parents who both carry an autosomal recessive change (two copies of an abnormal gene must be present in order for the disease or trait to develop.), you have a 1 in 4 chance of getting the malfunctioning genes from both parents and developing the disease, meaning you have a 50% (1 in 2) chance of inheriting the abnormal gene. This would make you a carrier. Zellweger syndrome is caused by mutations in any one of at least 12 genes; mutations in the PEX1 gene are the most common cause, (70%). It is inherited in an autosomal recessive manner.There is no cure for Zellweger syndrome; treatment is generally symptomatic and to be supportive.
- 4. Who is itmost common in? ZS is most common in newborns, most that have inherited ZS die before their first birthday reaching no physical or mental milestones that affects 1 in 50,000 individuals.
- 5. What part ofthe body does ZS affect? ZS effects… ● Upper forehead ● Earlobes ● Skull ● Muscles ● Liver ● Digestive tract ● Sclera ● Bones ● Cochlearis ● Brain ● Larynx
- 6. What are thesymptoms? The symptoms of ZS are… ● Poor sucking ● Epileptic seizures ● Psychomotor retardation: slowed physical and emotional response ● Impaired hearing ● Nystagmus: rapid involuntary eye movement ● Hepatomegaly: enlarged liver ● High forehead ● Flat occiput: bone in back of skull ● Large fontanelle: soft spot ● Abnormal Moro response: abnormal reflex when startled ● Low broad nasal bridge ● Epicanthus: skin fold of the eyelids ● High arched platelet: roof of mouth ● External ear deformities ● Micrognathia: small chin ● Multiple skin folds of the neck ● Brushfield spots: Speckled iris ● Cataracts: Cloudy corneas ● Glaucoma: high fluid pressure in the eyes causing blindness ● Retinal pigmentation ● Severe hypotonia: too much muscle tone ● Hyperreflexia: slow reflexes
- 7. When are theonset of symptoms? Zellweger syndrome is a Congenital disorder, meaning the symptoms are present at birth. After the onset typically most infants have up to 5 years to live.
- 8. What are theexams/tests? An Integrated Genetics Inhertist would test for a PEX1 gene mutation test, which is present in 70% of people with ZS. If you have 2 copies of the mutation you have Zellweger’s, one copy you are a carrier of the disease. Measurement of plasma very-long-chain fatty acid (VLCFA) levels is the most commonly used and most informative most times also.
- 9. What are thetreatments? Medical science as of now has not discovered a cure and there are general treatments besides symptomatic and supportive methods. Symptomatic therapy may include: gastrostomy to provide acceptable calorie intake, hearing aids, cataract removal in infancy, glasses, vitamin supplementation, primary bile acid therapy, antiepileptic drugs, and possibly monitoring for hyperoxaluria. (removal of salt in urine)
- 10. What’s the history? ZellwegerSyndrome was discovered by an Switz-American pediatrician Hans Zellweger.
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