Genetics of Glycogen-Storage Disease Type II (Pompe Disease) Follow-up

Updated: Oct 12, 2023
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD  more...
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Further Outpatient Care

Counsel parents of children with glycogen-storage disease type II (GSD II) regarding the autosomal-recessive inheritance pattern and the 25% recurrence risk for each subsequent pregnancy. Provide options for prenatal diagnosis with subsequent pregnancies. [28]

Chorionic villus sampling (CVS) and amniocentesis both can be used to determine GAA enzyme activity in a fetus. CVS enables prenatal diagnoses as early as 10 weeks' gestation.

Emphasize the genetic basis to family members and encourage communication among family members. Molecular genetic testing for at-risk family members is available if the pathogenic GAA variants have been identified.



The major complication among individuals with infantile-onset Pompe disease is aspiration pneumonia.