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

 Jung Hwan Lee  ;  Jin-Hong Shin  ;  Hyung Jun Park  ;  Sook Za Kim  ;  Young Mi Jeon  ;  Hye Kyoung Kim  ;  Dae-Seong Kim  ;  Young-Chul Choi 
 NEUROMUSCULAR DISORDERS, Vol.27(6) : 550-556, 2017 
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Adult ; Female ; Glycogen Storage Disease Type II/blood ; Glycogen Storage Disease Type II/complications ; Glycogen Storage Disease Type II/diagnosis ; Glycogen Storage Disease Type II/enzymology ; Humans ; Male ; Muscular Diseases/blood ; Muscular Diseases/complications ; Muscular Diseases/diagnosis ; Muscular Diseases/enzymology ; Prospective Studies ; Republic of Korea/epidemiology ; alpha-Glucosidases/blood
Late onset Pompe disease ; Pseudodeficiency ; Screening study ; Unspecified myopathies
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.
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1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Jung Hwan(이정환)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
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