Glycogen storage disease due to liver glycogen synthase deficiency

Preferred Label : Glycogen storage disease due to liver glycogen synthase deficiency;

ICD-11 definition : Hepatic glycogen synthase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves. Patients present with morning fatigue and fasting hypoglycemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia. After meals, major hyperglycemia associated with lactate and alanine increase and hyperlipidemia is observed.;

ICD-11 synonym : Glycogen storage disease type 0A; GSD type 0A; Glycogenosis type 0A;

Details

Origin ID

1927530758;

UMLS CUI

C0342748;

Currated CISMeF NLP mapping
- Glycogen storage disease 0, liver [OMIM Phenotype]
- Glycogen storage disease due to hepatic glycogen synthase deficiency [ORDO Disease]
- Glycogen storage disease type 0 liver type [Disease (Nov.)]
- Glycogen synthase deficiency (disorder) [SNOMED CT concept]
- Hepatic glycogen synthase deficiency (disorder) [SNOMED CT concept]
- glycogen storage disease 0, liver [MeSH Supplementary Concept]
- glycogen storage disease type 0 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen synthase deficiency (disorder) [SNOMED CT concept]
- glycogen storage disease type 0 [Disease (Nov.)]
Validated automatic mappings to NTBT
- glycogen storage disease type 0 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients