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.
Year introduced: 1989
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Subheadings:
Tree Number(s): C16.320.565.202.449.448, C18.452.648.202.449.448
MeSH Unique ID: D005953
Entry Terms:
- Gierke Disease
- Disease, Gierke
- Gierke's Disease
- Disease, Gierke's
- Gierkes Disease
- Glucose-6-Phosphatase Deficiency
- Deficiencies, Glucose-6-Phosphatase
- Deficiency, Glucose-6-Phosphatase
- Glucose 6 Phosphatase Deficiency
- Glucose-6-Phosphatase Deficiencies
- Glycogen Storage Disease 1 (GSD I)
- Glycogenosis 1
- Hepatorenal Glycogen Storage Disease
- von Gierke Disease
- Disease, von Gierke
- von Gierke's Disease
- Disease, von Gierke's
- von Gierkes Disease
- Deficiency, Glucosephosphatase
- Deficiencies, Glucosephosphatase
- Glucosephosphatase Deficiencies
- Glucosephosphatase Deficiency