Diseases

Glycogen Storage Disease Type I

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

Related Concepts

Knowledge Graph

Loading graph…

Drag nodes to rearrange; hover to trace links; click a node to open its page.

MeSH Record

Synonyms

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

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

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

MeSH Record

History Note

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

MeSH Hierarchy

Tree Numbers

  1. C16w.320w.565w.202w.449w.448w
  2. C18.452w.648w.202w.449w.448w

AMA Style

References

  1. National Library of Medicine. Glycogen Storage Disease Type I. Medical Subject Headings (MeSH). 2026. Unique ID D005953. http://id.nlm.nih.gov/mesh/2026/D005953
  2. Glycogen Storage Disease Type I. In: Wikipedia. https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I
  3. Glycogen Storage Disease Type I. In: Wikidata. https://www.wikidata.org/wiki/Q630090