Fast Five Quiz: Presentation and Diagnosis of Pompe Disease

Ranjodh Gill, MD


March 17, 2023

GAA assay in blood collected on filter paper, DBSs, is poised to become a reliable, relatively noninvasive, and specific assay with the further advantage of a rapid turnaround time. DBS can be conveniently collected by the heel- or finger-stick method and shipped from locations remote from the analytical center and are not only suitable for newborn screening of Pompe disease but also offer a rapid, noninvasive first-tier diagnostic test for ruling out Pompe disease. Blood can be directly spotted onto filter paper, and, in situations where access to filter paper is not available, whole blood can be sent to a diagnostic laboratory.

Elevation of Glc4 in urine has been identified in patients with Pompe disease. Analysis of urinary Glc4 is recommended as a noninvasive ancillary diagnostic test for Pompe disease. It has close to 100% sensitivity in identifying patients with IOPD and has been shown to correlate well with the clinical response to ERT.

Analysis of leukocyte vacuoles for glycogen by PAS staining is an inexpensive, quick, and reliable test for Pompe disease that is used by some clinicians.

Routine laboratory testing is used to help in the initial evaluation of a patient suspected of having Pompe disease, regardless of the type, and should include serum CK, aspartate transaminase, alanine transaminase, lactate dehydrogenase.

Learn more about the laboratory studies for Pompe disease.


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