Glycogen storage disorders

Glycogen storage disorders

Glycogen storage disorders (GSDs)
type enzyme defect clinical features
type I (von Gierke disease) glucose-6-phosphatase hypoglycemia, enlarged liver and kidneys, gastrointestinal symptoms, nosebleeds, short stature, gout
type II (Pompe disease) lysosomal acid alpha-glucosidase diminished muscle tone, heart failure, enlarged tongue
type III (Forbe disease, Cori disease) amylo-1,6-glucosidase (debrancher enzyme) hypoglycemia, enlarged liver, cirrhosis, muscle weakness, cardiac involvement
type IV (Andersen disease) brancher enzyme enlarged liver and spleen, cirrhosis, diminished muscle tone, possible nervous system involvement
type V (McArdle disease) myophosphorylase muscle weakness, fatigue, muscle cramps
type VI (Hers disease) liver phosphorylase mild hypoglycemia, enlarged liver, short stature in childhood
type VII (Tarui disease) muscle phosphofructokinase muscle pain, weakness, decreased endurance
type IX phosphorylase kinase mild hypoglycemia, enlarged liver, short stature in childhood, possible muscle weakness and cramps
type 0 liver glycogen synthetase hypoglycemia, possible mild enlarged liver
See as table:

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Universalium. 2010.

См. также в других словарях:

  • 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

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