Glycogen Storage Disease Type I
"Glycogen Storage Disease Type I" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D005953
|
| MeSH Number(s) |
C16.320.565.202.449.448 C18.452.648.202.449.448
|
| Concept/Terms |
Glycogen Storage Disease Type I- Glycogen Storage Disease Type I
- 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
|
Below are MeSH descriptors whose meaning is more general than "Glycogen Storage Disease Type I".
Below are MeSH descriptors whose meaning is more specific than "Glycogen Storage Disease Type I".
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Below are the most recent publications written about "Glycogen Storage Disease Type I" by people in Profiles over the past ten years.