von Gierke's disease

von Gierke's disease

also called  Glycogenosis Type I,  

      most common of a group of hereditary glycogen-storage diseases. It is inherited as an autosomal-recessive trait. In von Gierke's disease, the body's metabolism of glycogen is blocked by the absence of the enzyme glucose-6-phosphatase, which regulates the release of the simple sugar glucose from glycogen stored in the liver. This results in an abnormal accumulation of glycogen in the liver, causing the liver to enlarge and producing symptoms of hypoglycemia (low blood sugar) and hyperuricemia (gout). The disorder, which occurs in only about 1 in 200,000 persons, first appears in childhood and carries a high mortality rate in the early years. Children with the disease usually have poor muscular development, stunted growth, osteoporosis, and an abnormal bleeding tendency. Afflicted individuals who survive into adulthood suffer primarily from hyperuricemia and hepatoma (malignant tumour of the liver).

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Universalium. 2010.

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  • von Gierke disease — von Gier·ke disease vän gir kə or von Gier·ke s disease kəz n a glycogen storage disease that is caused by a deficiency of glucose 6 phosphate and has a clinical onset at birth or during infancy, that is characterized esp. by enlargement of the… …   Medical dictionary

  • Von-Gierke-Krankheit — Klassifikation nach ICD 10 E74.0 Glykogenspeicherkrankheit (Glykogenose) Von Gierke Krankheit …   Deutsch Wikipedia

  • Enfermedad de Von Gierke — Molécula de glucógeno simplificada …   Wikipedia Español

  • Edgar von Gierke — (1877 1945) was a German doctor. [WhoNamedIt|Doctor|1362] Glycogen storage disease type I is named for him.References …   Wikipedia

  • Von Gier|ke's disease — «GIHR kuhz», a metabolic condition in which excess glycogen causes an abnormal enlargement of the liver, kidneys, or other organ; glycogenosis. ╂[< Edgar von Gierke, 1877 1945, a German pathologist] …   Useful english dictionary

  • Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   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

  • 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

  • Glycogen storage disease — Classification and external resources Glycogen ICD 10 E74.0 …   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

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