| glycogenosis | Any of the glycogen deposition diseases characterised by accumulation of glycogen of normal or abnormal chemical structure in tissue; there may be enlargement of the liver, heart, or striated muscle, including the tongue, with progressive muscular weakness. Seven types (Cori classification) are recognised, depending on the enzyme deficiency involved, all of autosomal recessive inheritance, but with a different gene for each enzyme deficiency. Synonym: dextrinosis, glycogen-storage disease. (05 Mar 2000) |
|---|
| brancher deficiency glycogenosis | Type of glycogen storage disease, due to deficiency of amylo-1,4-1,6-transglucosidase (brancher enzyme). Synonym: brancher deficiency glycogenosis, debrancher deficiency. (05 Mar 2000) |
|---|---|
| generalised glycogenosis | Glycogenosis due to lysosomal alpha-1,4-glucosidase deficiency, resulting in accumulation of excessive amounts of glycogen of normal chemical structure in heart, muscle, liver, and nervous system. Synonym: generalised glycogenosis, Pompe's disease. (05 Mar 2000) |
| glucose-6-phosphatase hepatorenal glycogenosis | Glycogenosis due to glucose-6-phosphatase deficiency, resulting in accumulation of excessive amounts of glycogen of normal chemical structure, particularly in liver and kidney. Synonym: Gierke's disease, glucose-6-phosphatase hepatorenal glycogenosis, von Gierke's disease. (05 Mar 2000) |
| myophosphorylase deficiency glycogenosis | Glycogenosis due to muscle glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in muscle. Synonym: McArdle's disease, McArdle's syndrome, McArdle-Schmid-Pearson disease, myophosphorylase deficiency glycogenosis. (05 Mar 2000) |
| hepatophosphorylase deficiency glycogenosis | Glycogenosis due to hepatic glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in liver and leukocytes. Synonym: hepatophosphorylase deficiency glycogenosis, Hers' disease. (05 Mar 2000) |
| type 1 glycogenosis | Glycogenosis due to glucose-6-phosphatase deficiency, resulting in accumulation of excessive amounts of glycogen of normal chemical structure, particularly in liver and kidney. Synonym: Gierke's disease, glucose-6-phosphatase hepatorenal glycogenosis, von Gierke's disease. (05 Mar 2000) |
| type 2 glycogenosis | Glycogenosis due to lysosomal alpha-1,4-glucosidase deficiency, resulting in accumulation of excessive amounts of glycogen of normal chemical structure in heart, muscle, liver, and nervous system. Synonym: generalised glycogenosis, Pompe's disease. (05 Mar 2000) |
| type 3 glycogenosis | Glycogenosis due to amylo-1,6-glucosidase deficiency, resulting in accumulation of abnormal glycogen with short outer chains in liver and muscle. Synonym: Cori's disease, debranching deficiency limit dextrinosis, limit dextrinosis, Forbes' disease. (05 Mar 2000) |
| type 4 glycogenosis | Familial cirrhosis of the liver with storage of abnormal glycogen; glycogenosis due to deficiency of 1,4-alpha-glucan branching enzyme, resulting in accumulation of abnormal glycogen with long inner and outer chains in liver, kidney, muscle, and other tissues. Synonym: Andersen's disease. (05 Mar 2000) |
| type 5 glycogenosis | Glycogenosis due to muscle glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in muscle. Synonym: McArdle's disease, McArdle's syndrome, McArdle-Schmid-Pearson disease, myophosphorylase deficiency glycogenosis. (05 Mar 2000) |
| type 6 glycogenosis | Glycogenosis due to hepatic glycogen phosphorylase deficiency, resulting in accumulation of glycogen of normal chemical structure in liver and leukocytes. Synonym: hepatophosphorylase deficiency glycogenosis, Hers' disease. (05 Mar 2000) |
| type 7 glycogenosis | Phosphofructokinase deficiency of muscle resulting in muscle cramps and myoglobinuria on extreme exertion. The clinical picture resembles type 5 glycogenosis. (05 Mar 2000) |
| glycogenosis |
glycogen storage disease.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
|
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|