MeSH Browser

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

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
      - Glycogen Storage Disease [C16.320.565.202.449]
        
        Glycogen Storage Disease Type I [C16.320.565.202.449.448]
        
        Glycogen Storage Disease Type II [C16.320.565.202.449.500]
        
        Glycogen Storage Disease Type IIb [C16.320.565.202.449.510]
        
        Glycogen Storage Disease Type III [C16.320.565.202.449.520]
        
        Glycogen Storage Disease Type IV [C16.320.565.202.449.540]
        
        Glycogen Storage Disease Type V [C16.320.565.202.449.560]
        
        Glycogen Storage Disease Type VI [C16.320.565.202.449.580]
        
        Glycogen Storage Disease Type VII [C16.320.565.202.449.600]
        
        Glycogen Storage Disease Type VIII [C16.320.565.202.449.620]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
      - Glycogen Storage Disease [C18.452.648.202.449]
        
        Glycogen Storage Disease Type I [C18.452.648.202.449.448]
        
        Glycogen Storage Disease Type II [C18.452.648.202.449.500]
        
        Glycogen Storage Disease Type IIb [C18.452.648.202.449.510]
        
        Glycogen Storage Disease Type III [C18.452.648.202.449.520]
        
        Glycogen Storage Disease Type IV [C18.452.648.202.449.540]
        
        Glycogen Storage Disease Type V [C18.452.648.202.449.560]
        
        Glycogen Storage Disease Type VI [C18.452.648.202.449.580]
        
        Glycogen Storage Disease Type VII [C18.452.648.202.449.600]
        
        Glycogen Storage Disease Type VIII [C18.452.648.202.449.620]

Glycogen Storage Disease Type I Preferred

Concept UI: M0009351
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.
Terms: Glycogen Storage Disease Type I Preferred Term
Term UI T018031
Date01/01/1999
LexicalTag NON
ThesaurusID; Deficiency, Glucosephosphatase
Term UI T018029
Date05/31/1988
LexicalTag NON
ThesaurusID UNK (19XX); Gierke Disease
Term UI T018026
Date05/31/1988
LexicalTag EPO
ThesaurusID UNK (19XX); Gierke's Disease
Term UI T018027
Date05/31/1988
LexicalTag EPO
ThesaurusID UNK (19XX); Glucose-6-Phosphatase Deficiency
Term UI T018028
Date05/31/1988
LexicalTag NON
ThesaurusID; Glucosephosphatase Deficiency
Term UI T018030
Date05/31/1988
LexicalTag NON
ThesaurusID UNK (19XX); Glycogenosis 1
Term UI T018032
Date01/01/1975
LexicalTag NON
ThesaurusID UNK (19XX); Hepatorenal Glycogen Storage Disease
Term UI T018033
Date05/31/1988
LexicalTag NON
ThesaurusID UNK (19XX); von Gierke Disease
Term UI T704462
Date08/23/2007
LexicalTag EPO
ThesaurusID; von Gierke's Disease
Term UI T704463
Date08/23/2007
LexicalTag EPO
ThesaurusID; Glycogen Storage Disease 1 (GSD I)
Term UI T823363
Date06/12/2012
LexicalTag ABX
ThesaurusID

Glycogen Storage Disease Type I MeSH Descriptor Data 2025