Preferred Label : Glycogen storage disease due to liver or muscle glycogen phosphorylase kinase deficiency;
ICD-11 definition : Glycogen storage disease due to liver and muscle phosphorylase kinase (PhK) deficiency
is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due
to PhK deficiency. Patients have marked hepatomegaly and mild muscular hypotonia.
Hypoglycemia may occur only after prolonged fasting. These symptoms improve with age
and adults are generally asymptomatic.;
ICD-11 synonym : GSD type 9B; Glycogenosis type 9B; Glycogen storage disease type 9B;
Origin ID : 2089330573;
UMLS CUI : C0543514;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Glycogen storage disease due to liver and muscle phosphorylase kinase (PhK) deficiency
is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due
to PhK deficiency. Patients have marked hepatomegaly and mild muscular hypotonia.
Hypoglycemia may occur only after prolonged fasting. These symptoms improve with age
and adults are generally asymptomatic.
