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Glycogen Storage Disease Type I MeSH Descriptor Data 2023


MeSH Heading
Glycogen Storage Disease Type I
Tree Number(s)
C16.320.565.202.449.448
C18.452.648.202.449.448
Unique ID
D005953
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D005953
Annotation
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.
Entry Version
GLYCOGEN STORAGE DIS I
Entry Term(s)
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
Public MeSH Note
1989; see GLUCOSEPHOSPHATASE DEFICIENCY 1964-1988; for VON GIERKE'S DISEASE see GLYCOGENOSIS 1963-64
History Note
1989; use GLUCOSEPHOSPHATASE DEFICIENCY 1964-1988; for VON GIERKE'S DISEASE use GLYCOGENOSIS 1963-1964
Date Established
1965/01/01
Date of Entry
1999/01/01
Revision Date
2013/07/08
Glycogen Storage Disease Type I Preferred
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