Pompe's disease

Pompe's disease

also called  Glycogenosis Type Ii,  

      hereditary defect in the body's ability to metabolize glycogen, resulting in a muscle disorder that is usually fatal during the first year of life. The defect responsible, absence of the enzyme alpha-1,4-glucosidase, is extremely rare, occurring in fewer than one in every 150,000 births, and is transmitted as an autosomal recessive trait. In Pompe's disease, glycogen accumulates in all body tissues, but especially in the muscles, causing enlargement of the heart, cardiac muscle failure, and breathing difficulties. Accumulation of glycogen in other tissues causes mental retardation and enlargement of the liver and spleen. Death usually results from cardiorespiratory failure. Juvenile and adult forms, with similar but milder symptoms, are also known.

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  • Pompe's disease — Pom·pe s disease .päm pāz also Pom·pe disease pā n an often fatal glycogen storage disease that results from an enzyme deficiency, is characterized by abnormal accumulation of glycogen esp. in the liver, heart, and muscle, and usu. appears during …   Medical dictionary

  • Pompe's disease — Severe glycogen storage disease caused by deficiency in a (1 4) glucosidase, the lysosomal enzyme responsible for glycogen hydrolysis. Even though the non lysosomal glycogenolytic system is normal, glycogen still accumulates in the lysosomes …   Dictionary of molecular biology

  • Pompe-Krankheit — Klassifikation nach ICD 10 E74.0 Glykogenspeicherkrankheit …   Deutsch Wikipedia

  • Pompe disease — Pompe disease. См. гликогеноз II типа. (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.

  • Pompe disease — A genetic (inherited) deficiency of an enzyme called acid alpha glucosidase. This enzyme helps the body break down glycogen, a complex carbohydrate that is converted to glucose for energy. Without the enzyme, glycogen builds up in the heart and… …   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

  • Pompe — J.C., 20th century Dutch physician. See P. disease …   Medical dictionary

  • Glycogen storage disease type II — Infobox Disease Name = Glycogen storage disease type II Caption = DiseasesDB = 5296 ICD10 = ICD10|E|74|0|e|70 ICD9 = ICD9|271.0 ICDO = OMIM = 232300 MedlinePlus = eMedicineSubj = med eMedicineTopic = 908 eMedicine mult = eMedicine2|ped|1866 |… …   Wikipedia

  • Maladie De Pompe — Autre nom Glycogénose type 2 Référence MIM 23 …   Wikipédia en Français

  • Maladie de Pompe — Référence MIM 232300 Transmission Récessive Chromosome 17 q25.2 q25.3 Gène GAA Empreinte parentale Non …   Wikipédia en Français

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