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Pompe Disease (PD)


Pompe disease, also known as gylcogen storage disease type II, is a monogenic autosomal recessive disorder caused by the accumulation of glycogen in body cells due to reduced activity of the lysosomal acid alpha-glucosidase enzyme by which is degraded, encoded by the gene GAA. Although known to be a recessive disorder some heterozygous individuals can have reduced enzymatic activity. Three forms of presentation have been described according to the age at which clinical signs appear: in adulthood, adolescence or infancy. A total or partial deficiency of this enzyme causes cardimyopathy, muscle weakness, hypotonia and respiratory disorders. The common cardiac issues occurring in PD include cardimyopathy, heart failure and arrhythmias. Besides genetic testing, enzyme activity can be measured in cultured skin fibroblast. Enzyme replacement therapy is available and has shown to improve survival and motor function, normalizes cardiac function and stabilizes respiratory capacity, therefore, early diagnosis is important to enable early treatment.

  • To confirm the disease and initiate enzyme therapy
  • To better perform risk stratification and prognosis
  • To detect family members at risk who may need clinical evaluation
  • To enable the possibility of eventual future gene therapy

Our PD genetic test


Important: All our panels can be modified based on the phenotype. Please contact us if you have questions

What to expect from this test: PD is a monogenic disorder near 99% of the cases will host homozygous or compound heterozygous mutations in GAA


Recommended Literature

  • Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease. Kishani PS, et al. Genet Med. 2019 May 14.
  • The emerging phenotype of late-onset Pompe disease: A systematic literature review. Chan J., et al. Mol Genet Metab. 2017 Mar;120(3):163-172.
  • The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening. Atherton AM., et al., Pediatrics. 2017 Jul;140(Suppl 1):S46-S50.

Download here interesting open access manuscripts on PD: