Sandhoff disease

Sandhoff disease
a GM2 gangliosidosis characterized by deficiency of both hexosaminidase A and B isozymes; it is caused by mutation in the HEXB gene, which encodes the β chain of the enzyme, common to both isozymes. Clinical features are very similar to Tay-Sachs disease, although it differs biochemically in accumulation of additional substances, such as globoside and N-acetylglucosamine-containing oligosaccharides. It occurs as several forms (infantile, juvenile, and adult), decreasing in severity with increasing age of onset.

Medical dictionary. 2011.

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  • Sandhoff disease — Sandhoff disease. См. болезнь Сандгоффа. (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.

  • Sandhoff disease — Infobox Disease Name = Sandhoff disease Caption = DiseasesDB = 29469 ICD10 = ICD10|E|75|0|e|70 ICD9 = ICD9|330.1 ICDO = OMIM = 268800 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D012497 Sandhoff disease, also called Hexosaminidase A… …   Wikipedia

  • Sandhoff disease — Sand·hoff disease (zahndґhof) [K. Sandhoff, German biochemist, 20th century] see under disease …   Medical dictionary

  • Sandhoff-Krankheit — Klassifikation nach ICD 10 E75.0 GM2 Gangliosidose Sandhoff Krankheit …   Deutsch Wikipedia

  • Sandhoff — Konrad Sandhoff (* 11. August 1939 in Berlin) ist ein deutscher Biochemiker. Inhaltsverzeichnis 1 Werdegang 2 Arbeitsgebiete 3 Auszeichnungen 4 Veröffentlichungen 5 …   Deutsch Wikipedia

  • Sandhoff's disease — Sand·hoff s disease sand .hȯfs or Sand·hoff disease .hȯf n a hereditary disorder of lipid metabolism that is closely related to or a variant of Tay Sachs disease, that typically affects individuals of non Jewish ancestry, and that is… …   Medical dictionary

  • Sandhoff-Jatzkewitz disease — Sand·hoff Jatz·ke·witz disease jats kə .vits n SANDHOFF S DISEASE …   Medical dictionary

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

  • Sandhoff — K., contemporary German biochemist. See S. disease …   Medical dictionary

  • Morbus Sandhoff — Klassifikation nach ICD 10 E75.0 GM2 Gangliosidose Sandhoff Krankheit …   Deutsch Wikipedia

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