- Glycogen storage disorders
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▪ TableGlycogen storage disorders (GSDs)type enzyme defect clinical featurestype I (von Gierke disease) glucose-6-phosphatase hypoglycemia, enlarged liver and kidneys, gastrointestinal symptoms, nosebleeds, short stature, gouttype II (Pompe disease) lysosomal acid alpha-glucosidase diminished muscle tone, heart failure, enlarged tonguetype III (Forbe disease, Cori disease) amylo-1,6-glucosidase (debrancher enzyme) hypoglycemia, enlarged liver, cirrhosis, muscle weakness, cardiac involvementtype IV (Andersen disease) brancher enzyme enlarged liver and spleen, cirrhosis, diminished muscle tone, possible nervous system involvementtype V (McArdle disease) myophosphorylase muscle weakness, fatigue, muscle crampstype VI (Hers disease) liver phosphorylase mild hypoglycemia, enlarged liver, short stature in childhoodtype VII (Tarui disease) muscle phosphofructokinase muscle pain, weakness, decreased endurancetype IX phosphorylase kinase mild hypoglycemia, enlarged liver, short stature in childhood, possible muscle weakness and crampstype 0 liver glycogen synthetase hypoglycemia, possible mild enlarged liverSee as table:
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Universalium. 2010.
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Glycogen storage disease type V — Classification and external resources ICD 10 E74.0 ICD 9 271.0 … Wikipedia
Glycogen storage disease type III — Classification and external resources Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H E stain … Wikipedia
Glycogen storage disease — Classification and external resources Glycogen ICD 10 E74.0 … Wikipedia
glycogen storage disease — n any of several metabolic disorders (as McArdle s disease or Pompe s disease) that are characterized esp. by abnormal deposits of glycogen in tissue, are caused by enzyme deficiencies in glycogen metabolism, and are usu. inherited as an… … Medical dictionary
Glycogen storage disease type I — DiseaseDisorder infobox Name = Glycogen storage disease type I ICD10 = ICD10|E|74|0|e|70 ICD9 = ICD9|271.0 ICDO = Caption = OMIM = 232200 MedlinePlus = 000338 eMedicineSubj = ped eMedicineTopic = 2416 DiseasesDB = 5284 Glycogen storage disease… … Wikipedia
glycogen storage disease — Pathol. any of several inherited disorders of glycogen metabolism that result in excess accumulation of glycogen in various organs of the body. Also called glycogenosis /gluy koh jeuh noh sis/. * * * or glycogenosis Any of numerous types of… … Universalium
glycogen storage disease — noun : any of several metabolic disorders that are characterized especially by abnormal deposits of glycogen in tissue, are caused by enzyme deficiencies in glycogen metabolism, and are usually inherited as an autosomal recessive trait * * *… … Useful english dictionary
Glycogen — is a polysaccharide of glucose (Glc) which functions as the secondary short term energy storage in animal cells. It is made primarily by the liver and the muscles, but can also be made by the brain, uterus, and the vagina. [Anatomy and Physiology … Wikipedia
Glycogen phosphorylase — Phosphorylase The crystal structure of the rabit muscle glycogen phosphorylase AMP complex. AMP allosteric site (yellow), phosporylated Ser14 (orange), glycogen binding site (blue), catalytic site (red).[1] … Wikipedia
metabolic disease — ▪ pathology Introduction any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… … Universalium
