Genetic counseling in Pompe disease.

ABSTRACT: Pompe disease is caused by glycogen accumulation due to a deficiency of the lysosomal acid alpha-glucosidase enzyme by which it is degraded. It is a rare disease, accounting for 1:40.000 births. It is inherited as an autosomal recessive trait so that a couple presents a recurrent risk of 25% to have a child affected, at each pregnancy. The diagnosis could be achieved by biochemical and/or molecular testing. Carrier detection and prenatal diagnosis are available when the molecular defect is known.

SUBMITTER: Taglia A 

PROVIDER: S-EPMC3298105 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature