Preferred Label : Glycogen storage disease due to glycogen debranching enzyme deficiency;
ICD-11 definition : Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD
3), is a form of glycogen storage disease characterized by severe muscle weakness
and hepatopathy. Children present with hepatomegaly, growth retardation and occasional
seizures related to hypoglycemia. Hepatomegaly may disappear with adulthood. Muscle
weakness is slowly progressive. Other frequently associated signs include muscular
hypotonia and hypertrophic cardiomyopathy. Symptoms often improve at puberty, except
in the few cases where cirrhosis or myopathy appears.;
ICD-11 synonym : GSD type 3; Cori-Forbes disease; Forbes glycogen storage disease; Glycogenosis type 3; Glycogen storage disease type 3; Glycogen debranching deficiency; Forbes disease; Amylo-1,6-glucosidase deficiency; Cori disease;
ICD-11 inclusion : debrancher enzyme deficiency; deficiency of 6-alpha-d-glucosidase; debrancher deficiency glycogen storage disease; deficiency of amylo-1,6-glucosidase (disorder);
Origin ID : 530430134;
Currated CISMeF NLP mapping
Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD
3), is a form of glycogen storage disease characterized by severe muscle weakness
and hepatopathy. Children present with hepatomegaly, growth retardation and occasional
seizures related to hypoglycemia. Hepatomegaly may disappear with adulthood. Muscle
weakness is slowly progressive. Other frequently associated signs include muscular
hypotonia and hypertrophic cardiomyopathy. Symptoms often improve at puberty, except
in the few cases where cirrhosis or myopathy appears.
