title: 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.
authors.affiliation: Cardiomyology and Medical Genetics, Department of Experimental Medicine and CIRM, Second Naples University, Naples, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Taglia
authors.forename: Esther
authors.initials: E
authors.lastname: Picillo
authors.forename: Paola
authors.initials: P
authors.lastname: D'Ambrosio
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: Cecio
authors.forename: Emanuela
authors.initials: E
authors.lastname: Viggiano
authors.forename: Luisa
authors.initials: L
authors.lastname: Politano
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D011247:Pregnancy; D011296:Prenatal Diagnosis