Pompe Disease

Pompe Disease / Glycogen Storage Disease II (GSDII) or is a rare lysosomal storage disease. Patients have been classified as infantile, juvenile or adult onset types. More recently, it has been recognized that there is a continuum of phenotypes between the classical infantile onset and the adult form. Infantile GSDII presents during the first weeks or months of life with poor feeding, failure to thrive, macroglossia, severe hypotonia, cardiomegaly, mild hepatomegaly, and respiratory insufficiency. There is often a rapid progression to cardiac failure and death typically occurs within the first year. Later onset forms are characterized by skeletal muscle weakness, respiratory insufficiency and hepatomegaly. Cardiac involvement is usually absent or mild. The adult onset form presents in the third to sixth decade and is similar to the juvenile form but with a slower progression of skeletal muscle weakness.

Tests Available

Forms and Documents

Test Details

GAA
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

287
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 429.3 Cardiomegaly
  • 271 Disorders of carbohydrate transport and metabolism Excludes: abnormality of secretion of glucagon (251.4) diabetes mellitus (249.0-249.9, 250.0-250.9) hypoglycemia NOS (251.2) mucopolysaccharidosis (277.5)
  • 786.9 Respiratory insufficiency
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References

  1. Kroos et al., (1995) J Med Genet 32:836-837.
  2. Raben et al, (2002) Curr Molec Med 2:145-166.
  3. Kroos et al, (2007) Neurology 68:110-115.
  4. Hermans et al, (2004) Hum Mut 23:47-56.
  5. Montalvo et al., (2006) Hum Mut 27:999-1006.
  6. McCready et al., (2007) Mol Genet Metab 92:325-335.
  7. Oba-Shinjo et al., (2009) J Neurol 256:1881-1890.
  8. Pittis et al., (2008) Hum Mutat 29:E27-36.
  9. Joshi et al., (2008) J Inherit Metab Dis #113 Online
  10. Van der Kraan et al., (1994) Biochem Biophys Res Commun 203:1535-41.