GSD2 - Glycogen Storage Disease Type II/Générique

Pompe disease

Description: 
Abnormality of glucose metabolism resulting in an accumulation of glycogen in the body
Symptomes: 
Progressive muscular weakness, cardiac hypertrophy, cardio-respiratory failure, megaoesophagus, regurgitation and vomiting, death around 1,5 years of age
Age d'aparition: 
From the age of 6 months
Fréquence: 
Lower than 5% carriers
Gène impliqué: 
GAA
Mutation testée: 
c.2237G>A
Transmission: 
Autosomal Recessive
Brevet: 
-