Lysosomal acid alpha-glucosidase deficiency (Pompe disease ... - UpToDate
网页2024年1月23日 · Acid alpha-glucosidase (GAA, also called acid maltase) deficiency (Pompe disease, MIM #232300) was the first identified lysosomal storage disease. It is also classified as glycogen storage disease type II (GSD II) . GAA deficiency leads to accumulation of glycogen within the lysosome in all tissues . The defect in the lysosomal GAA enzyme ...
Pompe Disease: Symptoms & Treatment - Cleveland Clinic
网页2023年9月22日 · Pompe disease is a genetic condition in which a complex sugar called glycogen builds up in the lysosomes of your body’s cells. The disease occurs when you lack a specific digestive enzyme called acid alpha-glucosidase (GAA). The condition causes severe muscle weakness and wasting. Without early …
溶酶体酸性α葡萄糖苷酶缺乏症(Pompe病、糖原累积病Ⅱ型、酸性麦芽糖酶缺乏症) - UpToDate
网页酸性α葡萄糖苷酶 (acid alpha-glucosidase, GAA，也称为酸性麦芽糖酶)缺乏症 (Pompe病，MIM #232300)，是最早被发现的溶酶体累积病，其也被归类为糖原累积病Ⅱ型 (glycogen storage disease typeⅡ, GSD Ⅱ) (表 1) [1]。. GAA缺乏症可导致糖原在所有组织中的溶酶体内累积 (图 1)。. 不 ...
Structure of human lysosomal acid α-glucosidase–a guide for …
网页2017年10月24日 · Pompe disease, a rare lysosomal storage disease caused by deficiency of the lysosomal acid α-glucosidase (GAA), is characterized by glycogen accumulation, triggering severe secondary cellular...
Pompe disease: pathogenesis, molecular genetics and diagnosis
网页2020年8月8日 · Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). Currently, more than 560 mutations …
Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview
网页Pompe disease, also known as glycogen storage disease type II (GSD II) or acid maltase deficiency (AMD), is a genetic disorder caused by a deficiency of the acid alpha-glucosidase (GAA) enzyme, due to recessive mutations in the GAA gene, which leads to accumulation of lysosomal glycogen , diffusely but primarily affecting the skeletal and ...
Pompe disease diagnosis and management guideline - PMC
网页Pompe disease, also referred to as acid maltase deficiency (AMD) or glycogen storage disease type II (GSDII), is an autosomal recessive disorder caused by a deficiency of the lysosomal enzyme acid-α-glucosidase (GAA). 1 It was the first recognized lysosomal storage disease and is the only glycogen storage disease that is also a lysosomal ...
Pompe Disease: Glycogen Storage Disease Type II, Acid α-Glucosidase …
网页The diagnosis “Pompe disease” is confirmed by the finding of a complete deficiency of acid α-glucosidase activity in all classic-infantile cases or a markedly reduced activity (usually <30% of average normal) in all other cases—in leukocytes, cultured skin …
Enzymatic diagnosis of Pompe disease: lessons from 28 years of …
网页2020年11月8日 · Pompe disease is a lysosomal and neuromuscular disorder caused by deficiency of acid alpha-glucosidase (GAA), and causes classic infantile, childhood onset, or adulthood onset...
Acid alpha-glucosidase deficiency (Pompe disease) - PubMed
网页Acid alpha-glucosidase is the enzyme responsible for degradation of glycogen polymers to glucose in the acidic milieu of the lysosomes. Cardiac and skeletal muscles are the two major tissues affected by the accumulation of glycogen within the lysosomes.
- 某些结果已被删除