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Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.

Abstract：

:Pompe disease is a rare, autosomal recessive disorder characterized by deficiency of lysosomal acid alpha-glucosidase and accumulation of lysosomal glycogen in many tissues. The variable clinical manifestations, broad phenotypic spectrum, and overlap of signs and symptoms with other neuromuscular diseases make diagnosis challenging. In the past, the diagnosis of Pompe disease was based on enzyme activity assay in skin fibroblasts or muscle tissue. In 2004, methods for measuring acid alpha-glucosidase activity in blood were published. To compare how diagnostic methods changed over time and whether they differed by geographic region and clinical phenotype, we examined diagnostic methods used for 1059 patients enrolled in the Pompe Registry in three onset categories (Group A: onset of signs/symptoms ≤ 12 months of age with cardiomyopathy; Group B: onset ≤ 12 months without cardiomyopathy and onset >1 year to ≤ 12 years; Group C: onset >12 years). Enzyme activity-based assays were used more frequently than other diagnostic methods. Measuring acid alpha-glucosidase activity in blood (leukocytes, lymphocytes, or dried-blood spot) increased over time; use of muscle biopsy decreased. The increased use of blood-based assays for diagnosis may result in a more timely diagnosis in patients across the clinical spectrum of Pompe disease.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Kishnani PS,Amartino HM,Lindberg C,Miller TM,Wilson A,Keutzer J

doi

10.1016/j.ymgme.2014.07.014

subject

Has Abstract

pub_date

2014-09-01 00:00:00

pages

84-91

issue

1-2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(14)00218-2

journal_volume

113

pub_type

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