Clinical presentation of a patient with a severe form of pompe disease

Abstract

Pompe disease is a lysosomal storage disorder resulting from a deficiency of lysosomal acid a-gluco-sidase (GAA). Pompe disease has been classified as infantile onset or late onset; a single disease with a variable age at onset and rate of progression. The most severe form is typically diagnosed in infants between 3 and 5 months of age during the assessment of a respiratory infection, cardiomegaly, or hypotonia. In natural history studies in infants, the gap between diagnosis and ventilator use or death was 1 to 2 months; nearly all infants died by the age of 18 months.