| Descriptor English: | Glycogen Storage Disease Type I | ||||||
| Descriptor Spanish: |
Enfermedad del Almacenamiento de Glucógeno Tipo I
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| Descriptor Portuguese: | Doença de Depósito de Glicogênio Tipo I | ||||||
| Descriptor French: | Glycogénose de type I | ||||||
| Entry term(s): |
Deficiencies, Glucose-6-Phosphatase Deficiencies, Glucosephosphatase Deficiency, Glucose-6-Phosphatase Deficiency, Glucosephosphatase Disease, Gierke Disease, Gierke's Disease, von Gierke Disease, von Gierke's Gierke Disease Gierke's Disease Gierkes Disease Glucose 6 Phosphatase Deficiency Glucose-6-Phosphatase Deficiencies Glucose-6-Phosphatase Deficiency Glucosephosphatase Deficiencies Glucosephosphatase Deficiency Glycogen Storage Disease 1 (GSD I) Glycogenosis 1 Hepatorenal Glycogen Storage Disease von Gierke Disease von Gierke's Disease von Gierkes Disease |
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| Tree number(s): |
C16.320.565.202.449.448 C18.452.648.202.449.448 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D005953 | ||||||
| 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. |
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| Annotation: | do not use /congen & do not coord with INFANT, NEWBORN, DISEASES |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 1989; see GLUCOSEPHOSPHATASE DEFICIENCY 1964-1988; for VON GIERKE'S DISEASE see GLYCOGENOSIS 1963-64 |
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| History Note: | 1989; use GLUCOSEPHOSPHATASE DEFICIENCY 1964-1988; for VON GIERKE'S DISEASE use GLYCOGENOSIS 1963-1964 |
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| Entry Version: | GLYCOGEN STORAGE DIS I |
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| DeCS ID: | 24390 | ||||||
| Unique ID: | D005953 | ||||||
| NLM Classification: | WD 205.5.C2 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1965/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2013/07/08 |
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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. |
| Preferred term | Glycogen Storage Disease Type I |
| Entry term(s) |
Deficiencies, Glucose-6-Phosphatase Deficiencies, Glucosephosphatase Deficiency, Glucose-6-Phosphatase Deficiency, Glucosephosphatase Disease, Gierke Disease, Gierke's Disease, von Gierke Disease, von Gierke's Gierke Disease Gierke's Disease Gierkes Disease Glucose 6 Phosphatase Deficiency Glucose-6-Phosphatase Deficiencies Glucose-6-Phosphatase Deficiency Glucosephosphatase Deficiencies Glucosephosphatase Deficiency Glycogen Storage Disease 1 (GSD I) Glycogenosis 1 Hepatorenal Glycogen Storage Disease von Gierke Disease von Gierke's Disease von Gierkes Disease |
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