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Topic: Zellweger syndrome


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In the News (Tue 23 Jul 19)

  
  Zellweger Syndrome Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
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.
www.ninds.nih.gov /disorders/zellweger/zellweger.htm   (521 words)

  
  CIGNA - Zellweger Syndrome
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.
www.cigna.com /healthinfo/nord363.html   (1457 words)

  
  Zellweger Syndrome Treatment and Symptoms
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 a rare, congenital (present at birth) disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic su...
Zellweger syndrome is a rare, congenital (present at birth) disorder characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of th...
goldbamboo.com /topic-t3511.html   (271 words)

  
 Zellweger Syndrome
Zellweger syndrome is a rare, congenital (present at birth) disorder 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 the leukodystrophies that affect growth of the myelin sheath, the fatty covering--which acts as an insulator--on nerve fibers in the brain.
The prognosis for individuals with Zellweger syndrome is poor.
healthlink.mcw.edu /article/921991711.html   (235 words)

  
 Hunter's Hope: Zellweger Syndrome
Zellweger syndrome is a rare, congenital disorder 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, like Krabbe Disease, is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering--which acts as an insulator--on nerve fibers in the brain.
When Erin Michele VanKampen was diagnosed with Zellweger Syndrome at 7 months of age, we were told that she would probably not survive to see her 1st birthday.
www.huntershope.org /krabbe/other_leukos/zellweger.asp   (407 words)

  
 Zellweger Syndrome - WrongDiagnosis.com
Zellweger Syndrome: Zellweger syndrome is a rare hereditary disorder affecting infants, and usually results in death.
Zellweger Syndrome: A leukodystrophy that is caused by a absence of peroxisomes.
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.
www.wrongdiagnosis.com /z/zellweger_syndrome/intro.htm   (736 words)

  
 Zellweger Syndrome
Zellweger syndrome is an inherited peroxisomal metabolic disorder.
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.
www.malattiemetaboliche.it /articoli/zellweger_syndrome.htm   (318 words)

  
 Zellweger syndrome: Encyclopedia of Genetic Disorders
Zellweger syndrome refers to an inherited condition that is present at birth and usually causes death during the first six to twelve months of age.
This syndrome is caused by a lack or reduction of peroxisomes, which are specialized organelles that help the body get rid of toxic substances.
It is one of a group of genetic disorders called the leukodystrophies, diseases that involve abnormal growth of the fatty covering of nerve fibers (myelin sheath).
health.enotes.com /genetic-disorders-encyclopedia/zellweger-syndrome   (124 words)

  
 Zellweger Syndrome - Health Topics - Medical Encyclopedia - MSN Health & Fitness   (Site not responding. Last check: )
It is possible that the main title of the report Zellweger Syndrome is not the name you expected.
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.
health.msn.com /encyclopedia/healthtopics/articlepage.aspx?cp-documentid=100074186   (455 words)

  
 Arthrogryposis Multiplex Congenita
Zellweger syndrome or cerebrohepatorenal syndrome is characterized by severe hypotonia, brachycephaly, widely open fontanels and sutures, hepatomegaly, hypospadias and cryptorchidism in males (Figure 160.1), and clitoral hypertrophy in females.
Patients with Zellweger syndrome have a prominent forehead, flat occiput, round face, micrognathia, anteverted nares, low-set dysplastic ears, hypertelorism, puffy eyelids, epicanthal folds, glaucoma, cataracts, corneal clouding, and Brushfield spots.
Zellweger syndrome is associated with increased serum concentrations of very-long-chain fatty acids in plasma.
pediatricneuro.com /alfonso/pg160.htm   (226 words)

  
 Zellweger syndrome definition - Medical Dictionary definitions of popular medical terms
Zellweger syndrome: A genetic disorder, also called the cerebrohepatorenal syndrome, 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 disorders called the leukodystrophies, all of which affect the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain.
The prognosis (outlook) with Zellweger syndrome is poor.
www.medicinenet.com /script/main/art.asp?articlekey=11570   (300 words)

  
 Zellweger syndrome Information on Healthline
Zellweger syndrome refers to an inherited condition that is present at birth and usually causes death during the first six to twelve months of age.
The cause of Zellweger syndrome is a failure of the peroxisomes to be able to bring newly created peroxisomal proteins into the peroxisomes.
Absence of peroxisomes in liver biopsy specimen is considered essential for the diagnosis of Zellweger syndrome.
www.healthline.com /galecontent/zellweger-syndrome   (1186 words)

  
 Zellweger syndrome definition - Medical Dictionary definitions of popular medical terms easily defined on MedTerms
Zellweger syndrome: A genetic disorder, also called the cerebrohepatorenal syndrome, 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 disorders called the leukodystrophies, all of which affect the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain.
Fragile X Syndrome is a genetic disorder which causes a wide range of reasoning problems from mild learning disabilities to severe mental retardation.
www.medterms.com /script/main/art.asp?articlekey=11570   (354 words)

  
 Zellweger Syndrome - United Leukodystrophy Foundation
The disorders of the Zellweger spectrum result from defects in the assembly of a cellular structure called the peroxisome, and are therefore also sometimes called the peroxisome biogenesis disorders, or PBDs.
As we mentioned, disorders of the Zellweger spectrum are caused by defects in the assembly of the peroxisome.
The disorders of the Zellweger spectrum are congenital (present at birth).
www.ulf.org /types/Zellweger.html   (876 words)

  
 BioMed Central | Full text | Pathogenesis of peroxisomal deficiency disorders (Zellweger syndrome) may be mediated by ...
Zellweger syndrome (ZS) is a fatal inherited disease caused by peroxisome biogenesis deficiency.
Zellweger syndrome (ZS) is a class of inherited metabolic disorders caused by a deficiency in peroxisomal biogenesis (reviewed in [1,2]).
However, the most striking connection between Zellweger syndrome and DBI-mediated misregulation of GABAergic signaling is provided by the report of severe developmental malformations in babies born to mothers that had used benzodiazepines such as diazepam during pregnancy.
www.biomedcentral.com /1471-2431/4/5   (5179 words)

  
 Arthrogryposis Multiplex Congenita
The diagnosis of Zellweger syndrome is established by fibroblast culture and liver biopsy.
Genetic defects at 7q11.23 and 1p22-p21 are associated with Zellweger syndrome.
The brain abnormalities in Walker-Warburg syndrome are probably due to a defect in the external basal lamina of the brain.
pediatricneuro.com /alfonso/pg161.htm   (286 words)

  
 PXMP3 - peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)
The cause of the syndrome in this patient was a point mutation that resulted in the premature termination of peroxisome assembly factor-1.
Assignment of the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization.
Per6p has significant overall sequence similarity with the human peroxisome assembly factor PAF-1, a protein that is defective in certain patients suffering from the peroxisomal disorder Zellweger syndrome, and with car1, a protein required for peroxisome biogenesis and caryogamy in the filamentous fungus Podospora anserina.
www.ihop-net.org /UniPub/iHOP/gi/91545.html   (1069 words)

  
 Zellweger Syndrome
It is possible that the main title of the report Zellweger Syndrome is not the name you expected.
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.
children.webmd.com /zellweger-syndrome   (473 words)

  
 Zellweger Syndrome - Quest Diagnostics Patient Health Library   (Site not responding. Last check: )
It is possible that the main title of the report Zellweger Syndrome is not the name you expected.
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.
www.questdiagnostics.com /kbase/nord/nord363.htm   (434 words)

  
 [No title]
Summary: Cerebrohepatorenal syndrome of Zellweger (Zellweger syndrome) is a peroxisomal disease that is biochemically characterized by abnormal accumulation of very long chain fatty acid, and morphologically characterized by a neuronal migration defect, typically pachymicrogyria, affecting both the cerebral hemisphere and cerebellar hemisphere.
Spectrum: Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and Infantile Refsum’s disease constitute a disease continuum of peroxisomal disorders.
Background: Cerebrohepatorenal syndrome of Zellweger is the most severe form of peroxisomal disorder due to errors in peroxisomal biogenesis or defects in maintaining peroxisomal intergrity.
moon.ouhsc.edu /kfung/JTY1/NeuroHelp/ZNF3IE02.htm   (838 words)

  
 Hans Zellweger
During this period, Dr. Zellweger was among the first to introduce cytogenetics to our country and later initiated a Regional Consultative Service for the Iowa State Department of Health and the Division of Medical Genetics.
The Zellweger Syndrome, named for him, is now a well known entity to Medical Genetics.
Dr. Zellweger has done intensive research on chromosomes which is the subject of "Chromosomes of Man" a book he co-authored with Jane Simpson.
www.southalabama.edu /genetics/zell.htm   (459 words)

  
 NEJM -- Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new ...
NEJM -- Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome.
Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome.
The Zellweger cerebro-hepato-renal syndrome is a genetic disease characterized by the absence of peroxisomes and deficiency of glycerol-ether lipids in several tissues.
content.nejm.org /cgi/content/abstract/311/17/1080   (565 words)

  
 Zellweger syndrome
on Zellweger syndrome from the National Institute of Neurological Disorders and Stroke, NIH
ZELLWEGER SYNDROME is a rare hereditary disorder affecting infants, and usually results in death.
Unusual problems in prenatal development, an enlarged liver, high levels of iron and copper in the blood, and vision disturbances are among the major manifestations of Zellweger syndrome.
www.ncbi.nlm.nih.gov /disease/Zellweger.html   (222 words)

  
 Hans Zellweger
Zellweger received his Medical Degree from the University of Zurich following which he became a Resident in Pathology and Microbiology, Surgery, OB/GYN and lastly in Pediatrics.
During this period, Dr. Zellweger was among the first to introduce cytogenetics to our country and later initiated a Regional Consultative Service for the Iowa State Department of Health and the Division of Medical Genetics.
Dr. Zellweger has done intensive research on chromosomes which is the subject of "Chromosomes of Man" a book he co-authored with Jane Simpson.
www.usouthal.edu /genetics/zell.htm   (459 words)

  
 Zellweger Syndrome :: Genetic Disorders : Gourt
It is characterized by an individual's inability to beta-oxidize very-long chain fatty acids in the peroxisomes of the cell, due to a genetic disorder in one of the several genes involved with peroxisome biogenesis.
Named after Hans Zellweger, a former professor of Pediatrics and Genetics at the University of Iowa who did research into the disease, it is also called cerebrohepatorenal syndrome.
Meta Description: [ Zellweger syndrome is a rare, birth disorder 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.
www.gourt.com /Health/Conditions-and-Diseases/Genetic-Disorders/Zellweger-Syndrome.html   (546 words)

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