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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

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Genetic counseling in Pompe disease.

Taglia Antonella A Picillo Esther E D'Ambrosio Paola P Cecio Maria Rosaria MR Viggiano Emanuela E Politano Luisa L

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 20111201 3

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 ...[more]

PMID: 22616199

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