Zellweger syndrome

       congenital disorder characterized by complete absence or reduction in the number of peroxisomes (peroxisome) in cells (cell). In the mid-1960s Swiss American pediatrician Hans Zellweger described the familial disorder among siblings; the syndrome was later named for him in recognition of his discovery.

      Peroxisomes are membrane-bound organelles that contain enzymes (enzyme) capable of oxidizing and metabolizing molecules, such as fatty acids (fatty acid) and amino acids (amino acid), that are normally found in cells. Genetic mutations (mutation) giving rise to Zellweger syndrome cause copper, iron, and substances called very-long-chain fatty acids to accumulate in the blood and in tissues, such as the liver, brain, and kidneys (kidney). Infants with Zellweger syndrome are often born with facial deformity and intellectual disability; some may have impaired vision and hearing and may experience severe gastrointestinal bleeding or liver failure. Prognosis is poor—most infants with this syndrome do not live beyond one year.

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Universalium. 2010.

Look at other dictionaries:

  • Zellweger syndrome — Classification and external resources ICD 10 Q87.8 ICD 9 277.86 …   Wikipedia

  • Zellweger syndrome — Zellweger syndrome. См. синдром Цельвегера. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • 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 …   Medical dictionary

  • Zellweger syndrome — noun A rare congenital disorder characterized by the reduction or absence of peroxisomes in the cells of the liver, kidneys, and brain and the inability to beta oxidize very long chain fatty acids. Syn: cerebrohepatorenal syndrome …   Wiktionary

  • Zellweger — may refer to:* Zellweger off peak, the brand name of an electric switching device * Zellweger syndrome, a rare congenital disorderPeople with the surname Zellweger:* Marc Zellweger (born 1973), Swiss football defender * Renée Zellweger (born… …   Wikipedia

  • Syndrome, cerebrohepatorenal — A genetic disorder, which is also called the Zellweger 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 …   Medical dictionary

  • Syndrome, Zellweger — 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 …   Medical dictionary

  • Syndrome de zellweger — Le syndrome de Zellweger est une maladie de la fonction peroxysomale. Le syndrome de Zellweger est la manifestation la plus grave de mutations géniques qui se présentent également dans : l Adrénoleucodystrophie néonatale autosomique ;… …   Wikipédia en Français

  • Zellweger-Syndrom — Klassifikation nach ICD 10 Q87.8 Sonstige näher bezeichnete angeborene Fehlbildungssyndrome, andernorts nicht klassifiziert Zellweger Syndrom …   Deutsch Wikipedia

  • Syndrome de Zellweger — Le syndrome de Zellweger est une maladie de la fonction peroxysomale. Le syndrome de Zellweger est la manifestation la plus grave de mutations géniques qui se présentent également dans : l Adrénoleucodystrophie néonatale autosomique ;… …   Wikipédia en Français

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