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Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population

Title
Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population
Authors
Lee, Jung HwanShin, Jin-HongPark, Hyung JunKim, Sook ZaJeon, Young MiKim, Hye KyoungKim, Dae-SeongChoi, Young-Chul
Ewha Authors
박형준
SCOPUS Author ID
박형준scopusscopus
Issue Date
2017
Journal Title
NEUROMUSCULAR DISORDERS
ISSN
0960-8966JCR Link1873-2364JCR Link
Citation
vol. 27, no. 6, pp. 550 - 556
Keywords
Late onset Pompe diseaseScreening studyUnspecified myopathiesPseudodeficiency
Publisher
PERGAMON-ELSEVIER SCIENCE LTD
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
We performed targeted population screening of late onset Pompe disease (LOPD) in unspecified myopathy patients, because early diagnosis is difficult due to its heterogeneous clinical features. We prospectively enrolled 90 unrelated myopathic patients who had one or more signs out of five LOPD-like clinical findings (proximal weakness, axial weakness, lingual weakness, respiratory difficulty, idiopathic hyperCKemia). Acid alpha glucosidase activity was evaluated with dried blood spot and mixed leukocyte simultaneously. For a final diagnosis of LOPD, 16 patients with decreased enzyme activity were genotyped by GAA molecular analysis. We found two patients with LOPD (2.2%), and the remaining 14 patients had at least one G576S or E689K mutation, known as the pseudodeficiency allele. Acid alpha glucosidase activity of LOPD patients was significantly lower than that of patients with at least one pseudodeficiency allele (p = 0.017). This study is the first LOPD screening study for targeted Korean population, and more generally, an Asian population. Our findings suggest that for diagnosis of LOPD in Asian population, modified cutoff value of acid alpha glucosidase activity with dry blood spot considering that of patients having heterozygote pathogenic variants or pseudodeficiency alleles may reduce time and cost requirements and increase the comfort of patients. (C) 2017 Elsevier B.V. All rights reserved.
DOI
10.1016/j.nmd.2017.03.005
Appears in Collections:
의료원 > 의료원 > Journal papers
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