Preferred Label : Glycogen storage disease due to acid maltase deficiency;
ICD-11 definition : Glycogen storage disease type 2 (GSD II), or Pompe disease, is a lysosomal storage
disease which particularly affects the skeletal and respiratory muscles with varying
degrees of gravity and which, in the infantile form, is associated with hypertrophic
cardiomyopathy. The infantile form of the disease starts before the age of 3 months
with major hypotonia, sucking and swallowing difficulties, hypertrophic cardiomyopathy
and progressive hepatomegaly. The adult form results in progressive limb-girdle myopathy
beginning with the lower limbs, and affects the respiratory system. A large spectrum
of intermediate forms exists between these two extremes.;
ICD-11 synonym : Acid alpha-1,4-glucosidase deficiency; Pompe disease; GSD type 2; Glycogenosis type 2; alpha-glucosidase deficiency; Glycogen storage disease type 2; Acid maltase deficiency;
ICD-11 inclusion : deficiency of maltase; deficiency of gamma-amylase; deficiency of glucoinvertase; deficiency of amyloglucosidase; deficiency of glucoamylase; deficiency of exo-1,4-alpha-glucosidase; deficiency of glucosidosucrase; deficiency of glucan 1,4-alpha-glucosidase;
Origin ID : 1427054474;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- See also inter- (CISMeF)
Glycogen storage disease type 2 (GSD II), or Pompe disease, is a lysosomal storage
disease which particularly affects the skeletal and respiratory muscles with varying
degrees of gravity and which, in the infantile form, is associated with hypertrophic
cardiomyopathy. The infantile form of the disease starts before the age of 3 months
with major hypotonia, sucking and swallowing difficulties, hypertrophic cardiomyopathy
and progressive hepatomegaly. The adult form results in progressive limb-girdle myopathy
beginning with the lower limbs, and affects the respiratory system. A large spectrum
of intermediate forms exists between these two extremes.
