- 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 other muscles, causing extensive damage. Pompe disease, also known as type 2 glycogen storage disease, is one of several types of glycogen storage disease. The inheritance of Pompe disease is a recessive condition. It is caused by a gene mutation inherited from both parents who are carriers of the gene. The risk to each of their children is 1 in 4 (25%) to have Pompe disease. There are several different forms of Pompe disease which vary in severity. One type is rapidly fatal because it damages the heart and the respiratory muscles that are needed for breathing. But the brain is spared, and babies remain as bright and aware as ever while they weaken, become immobile, and then die. It is estimated that at any given time there are 3,000 to 6,000 cases of Pompe disease in the U.S. It is named for a Dutch physician, Johann Cassianius Pompe.
* * *glycogen storage d., type II.
Medical dictionary. 2011.
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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-Krankheit — Klassifikation nach ICD 10 E74.0 Glykogenspeicherkrankheit … Deutsch Wikipedia
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 — ▪ pathology 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… … Universalium
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
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