How is Zellweger syndrome manifest in babies?
From wikipedia.com. Zellweger syndrome , also called cerebrohepatorenal syndrome is a rare, congenital disorder (present at birth), characterized by the reduction or abse…nce of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver , kidneys , and brain .
Prevalance of Zellweger Syndrome: rare . Please see the following link for extrapolation of statistical data http://www.wrongdiagnosis.com/z/zellweger_syndrome/stats-cou…ntry.htm
You can't test for it but look for these symptoms etc.: Zellweger syndrome is an inherited peroxisomal metabolic disorder. Peroxisomes are found in almost all body cells and… are responsible for many important cell processes. Zellweger syndrome causes a defect in the peroxisomes, which affects the body severely. Zellweger syndrome is estimated to occur in 1 of every 50,000 to 100,000 births. It affects both males and females and is present at birth. Symptoms Zellweger syndrome affects many parts of the body, including: . Head and face - enlarged head, high forehead, large anterior fontanelle ("soft spot"), malformed ear lobes, flat-looking face . Brain and nervous system - abnormal brain development leads to seizures, hearing and vision impairment, profound mental retardation and developmental delay, diminished or absent reflexes . Liver - enlarged liver with impaired function, jaundice . Kidneys - renal cysts, hydronephrosis . Muscles and bones - very low muscle tone (hypotonia), bone defects in the hands, legs, and feet Diagnosis The distinctive shape of the head and face of the infant born with Zellweger syndrome provides a clue to the diagnosis. Zellweger syndrome causes the build-up of very-long-chain fatty acids (VLCFA), so a test for VLCFA can help confirm the diagnosis. This and other highly specialized biochemical and genetic tests can be done at certain testing centers. Treatment Despite the progress research has made in understanding Zellweger syndrome, no cure yet exists, and infants born with the disorder usually die within the first year of life. Medical care focuses on treating the symptoms present, such as liver dysfunction and seizures. Changing the amount of VLCFA in the diet has not been shown to be an effective treatment. In addition, physical, occupational, and speech therapy can assist with feeding and comfort issues. Genetic counseling Parents should receive genetic counseling, since Zellweger syndrome is inherited in a autosomal recessive manner. This means that both parents are carriers of the defective gene, and each future child has a 25% chance of being born with Zellweger syndrome.
I know a girl with Z's and she just turned 18.
As a result of impaired peroxisome function, an individual's tissues and cells can accumulate very long chain fatty acids (VLCFA) and branched chain fatty acids (BCFA) that ar…e normally degraded in peroxisomes.
Zellweger syndrome is autosomal recessive.
Physical, occupational, respiratory, and speech therapists can provide supportive strategies and devices to maintain posture, independent breathing, speech, eating, and other …daily activities
Zellweger syndrome is caused by mutations in any one of several different genes involved in the function of the peroxisome
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
Characteristic features include a high forehead, upslanting eyes, and skin folds along the medial (nasal) borders of the palpebral fissures (space between upper and lower eyel…ids) of the eyes
Persons with Zellweger syndrome rarely live more than one year after diagnosis, with death due mostly to severe feeding difficulties, liver complications, respiratory distress…, and cardiac defects.
There is no cure for Zellweger syndrome and treatment is based solely on lessening the symptoms and supporting the involved organs.
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.
disease you can get from another person or animal