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Acta Myol. 2011 Dec;30(3):179-81.

Genetic counseling in Pompe disease.

Author information

  • 1Cardiomyology and Medical Genetics, Department of Experimental Medicine and CIRM, Second Naples University, Naples, Italy.

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.

PMID:
22616199
[PubMed - indexed for MEDLINE]
PMCID:
PMC3298105
Free PMC Article
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