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... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type I
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Glycogen Storage Disease > Glycogen Storage Disease Type I

Preferred term

Glycogen Storage Disease Type I  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Deficiencies, Glucose-6-Phosphatase
  • Deficiencies, Glucosephosphatase
  • Deficiency, Glucose-6-Phosphatase
  • Deficiency, Glucosephosphatase
  • Disease, Gierke
  • Disease, Gierke's
  • Disease, von Gierke
  • Disease, von Gierke's
  • Gierke Disease
  • Gierke's Disease
  • Gierkes Disease
  • Glucose-6-Phosphatase Deficiencies
  • Glucose 6 Phosphatase Deficiency
  • Glucose-6-Phosphatase Deficiency
  • Glucosephosphatase Deficiencies
  • Glucosephosphatase Deficiency
  • Glycogenosis 1
  • Glycogen Storage Disease 1 (GSD I)
  • Hepatorenal Glycogen Storage Disease
  • von Gierke Disease
  • von Gierke's Disease
  • von Gierkes Disease

Note

  • do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

Scope note

  • 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.

History note

  • 1989; use GLUCOSEPHOSPHATASE DEFICIENCY 1964-1988; for VON GIERKE'S DISEASE use GLYCOGENOSIS 1963-1964

In other languages

  • glykogenoosi I

    Finnish

  • dekstrinoosi I
  • dekstrinoosi tyyppi I
  • glykogenoosi tyyppi I
  • morbus von Gierke
  • tyypin I dekstrinoosi
  • tyypin I glykogenoosi
  • tyyppi I dekstrinoosi
  • tyyppi I glykogenoosi
  • von Gierke
  • von Gierken tauti
  • Glykogeninlagringssjukdom typ I

    Swedish

  • Gierkes sjukdom
  • Glukos-6-fosfatasbrist
  • Glukosfosfatasbrist
  • Glykogenos 1
  • Glykogenos typ I

URI

http://www.yso.fi/onto/mesh/D005953

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