Syndrome De Zellweger Sites Et Documents Francophones Syndrome de Zellweger Synonyme(s) CISMeF c r broh pato-r nal, syndrome. Synonyme(s) MeSH Syndrome c r broh pator nal ; http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Zellweger Syndrome, Cerebrohepatorenal Syndrome Disease Zellweger syndrome, cerebrohepatorenal syndrome. OMIM number 214100. Body System Metabolic disorder. Type Inheritance pattern http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Webkatalog 4. Zellweger Syndrome Information page compiled by NINDS, the National Institute of Neurological Disorders and Stroke. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: Zellweger's syndrome Cerebrohepatorenal syndrome: Definition(s) via UMLS Code translations and terms via UMLS Cerebrohepatorenal syndrome: specific web sites Send Cerebrohepatorenal syndrome to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these:
Cerebrohepatorenal Syndrome Of Zellweger (Zellweger Syndrome Background cerebrohepatorenal syndrome of Zellweger is the most severe form ofperoxisomal disorder due to errors in peroxisomal biogenesis or defects in http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNF3IE02.htm
Extractions: Cerebrohepatorenal syndrome of Zellweger (Zellweger syndrome) NeuroLearn NeuroHelp Metabolic Peroxisomal disorders, classification ... Gross Pathology BACKGROUND AND CLINICAL INFORMATION Head 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. This is the first syndrome known in which malformations of the brain and other organs are associated with an inborn error of metabolism. Spectrum: Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and Infantile Refsums disease constitute a disease continuum of peroxisomal disorders. Migration disorders, can be seen in both Zellweger syndrome and, less severely, in NALD. No malformation has been reported in infantile Refsums disease. 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. This group constitues the generalized peroxisomal disorders and are inherited as autosomal recessive traits. There is loss of multiple peroxisomal enzyme activities often associated with morphological abnormalities of peroxisomes. Many of the disorders in this group are due to defects in importing protein(s) into the peroxisomes.
Glossary In Congenital Malformations NeuroLearn NeuroHelp Syndromes and Sequences Head. Zellweger syndrome (cerebrohepatorenal syndrome)Zellweger syndrome is a peroxisomal disease with autosomal recessive http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNG0BS01-Z.htm
Extractions: Glossary in Congenital Malformations NeuroLearn NeuroHelp Malformations General ... Z General Syndromes and Sequences Head #Zellweger syndrome (cerebrohepatorenal syndrome): Zellweger syndrome is a peroxisomal disease with autosomal recessive transmission. Biochemically it is characterized by abnormal accumulation of very long chain fatty acid. The peroxisomal Beta-oxidation is impaired and lead to the accumulation of saturated very long chain (over 22 carbon) fatty acid (VLCFA). Pathologically, there is migration defect affecting both the cerebral hemisphere and cerebellar hemisphere. Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsums disease constitute a disease continuum of peroxisomal disorders. Migration disorders can be seen in both Zellweger syndrome and, less severely, in NALD. No malformation has been reported in infantile Refsums disease. NeuroLearn NeuroHelp Malformations General ... Syndromes For Comment: KarMing-Fung@ouhsc.edu
MedForumsLive.com - Cerebrohepatorenal Syndrome cerebrohepatorenal syndrome A genetic disorder, which is also called the Zellweger syndrome, characterized by the reduction or absence of http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Zellweger Syndrome Bowen Syndrome; cerebrohepatorenal syndrome. Disorder Subdivisions. None.General Discussion. Zellweger Syndrome is a rare hereditary disorder affecting http://my.webmd.com/hw/raising_a_family/nord363.asp
Extractions: Zellweger syndrome is a rare, hereditary disorder characterized by a deficiency or absence of peroxisomes in the cells of the liver, kidneys, and brain. Peroxisomes are very small, membrane-bound structures within the cytoplasm of cells that function as part of the bodys waste disposal system. In the absence of the enzymes normally found in peroxisomes, waste products, especially very long chain fatty acids (VLCFA), accumulate in the cells of the affected organ. The accumulation of these waste products has profound affects on the development of the fetus.
Extractions: Zellweger Syndrome Definition: An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA SENSORINEURAL HEARING LOSS ; visual compromise; SEIZURES ; progressive degeneration of the KIDNEYS and the LIVER . Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
