glycogen storage disease : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 5 페이지: 1

Glycogen Storage Disease - 새창 A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
Synonyms : Disease, Glycogen Storage, Diseases, Glycogen Storage, Glycogen Storage Diseases, Glycogenoses, Storage Disease, Glycogen, Storage Diseases, Glycogen
Glycogen Storage Disease Type I - 새창 An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
Synonyms : Deficiency, Glucosephosphatase, Gierke Disease, Gierke's Disease, Von Gierke Disease, Deficiencies, Glucose-6-Phosphatase, Deficiencies, Glucosephosphatase, Deficiency, Glucose-6-Phosphatase, Disease, Gierke, Disease, Gierke's, Disease, Von Gierke
Glycogen Storage Disease Type II - 새창 An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)
Synonyms : Adult Glycogen Storage Disease Type II, Deficiency Disease, Acid Maltase, Deficiency Disease, Lysosomal alpha-1, 4-Glucosidase, Glycogen Storage Disease Type II, Adult, Glycogen Storage Disease Type II, Infantile, Glycogen Storage Disease Type II, Juvenile
Glycogen Storage Disease Type IIb - 새창 An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and MENTAL RETARDATION. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.
Synonyms : Danon Disease, Glycogen Storage Disease IIb, Vacuolar Cardiomyopathy and Myopathy, X-linked, X-Linked Vacuolar Cardiomyopathy and Myopathy, Disease, Danon, Vacuolar Cardiomyopathy and Myopathy, X linked, X Linked Vacuolar Cardiomyopathy and Myopathy
Glycogen Storage Disease Type III - 새창 An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.
Synonyms : Cori Disease, Deficiency, Debrancher, Coris Disease, Debrancher Deficiencies, Deficiencies, Debrancher, Dextrinoses, Limit, Dextrinosis, Limit, Disease, Cori, Disease, Cori's, Disease, Forbes, Limit Dextrinoses