Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted. The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit cc.nih.gov. Updates regarding government operating status and resumption of normal operations can be found at opm.gov.

NLM Logo

Glycogen Storage Disease Type I MeSH Descriptor Data 2025


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
page delivered in 0.116s