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;
Origin ID : 1927530758;
UMLS CUI : C0342748;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
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.
