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진단되지 않은 근육병 환자를 대상으로 시행한 늦은 발병 폼페병의 다기관 표적집단선별검사
DC Field | Value | Language |
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dc.contributor.author | 최영철 | - |
dc.date.accessioned | 2021-12-28T17:06:00Z | - |
dc.date.available | 2021-12-28T17:06:00Z | - |
dc.date.issued | 2021-05 | - |
dc.identifier.issn | 1225-7044 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/186934 | - |
dc.description.abstract | Background Pompe disease is a rare autosomal recessive disorder caused by the deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA). Early diagnosis and initiation of treatment with enzyme replacement therapy have remarkable effects on the prognosis of Pompe disease. We performed the expanded screening for late onset Pompe disease (LOPD) at eight centers in Korea. Methods From September 1, 2015, GAA activity were measured from both dried blood spot (DBS) and mixed leukocyte for 188 available patients. For 12 patients with low GAA activity, we performed Sanger sequencing of GAA gene. Results Among 188 patients, 115 were males. The mean of age of symptom onset and diagnosis were 34.3 years and 41.6 years. Among 12 patients with decreased GAA activity, two patients were confirmed to have LOPD with genetic test (c.1316T>A [p.M439K] + c.2015G>A [p.R672Q], c.1857C>G [p.S619R] + c.546G>C [leaky splicing]). Other two patients had homozygous G576S and E689K mutation, known as pseudodeficiency allele. Conclusions This study is expanded study of LOPD screening for targeted Korean population. We found two patients with LOPD, and the detection rate of LOPD is 1.06%. With application of modified GAA cutoff value (0.4), which was previously reported, there were no false positive results of GAA activity test using DBS. Therefore, it could be an appropriate screening test for LOPD in especially East-Asian population, in which pseudodeficiency allele is frequent. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | Korean | - |
dc.publisher | 대한신경과학회 | - |
dc.relation.isPartOf | Journal of the Korean Neurological Association(대한신경과학회지) | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | 진단되지 않은 근육병 환자를 대상으로 시행한 늦은 발병 폼페병의 다기관 표적집단선별검사 | - |
dc.title.alternative | Multicenter Targeted Population Screening of Late Onset Pompe Disease in Unspecified Myopathy Patients in Korea | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학교실) | - |
dc.contributor.googleauthor | 이정환 | - |
dc.contributor.googleauthor | 신진홍 | - |
dc.contributor.googleauthor | 김대성 | - |
dc.contributor.googleauthor | 김광국 | - |
dc.contributor.googleauthor | 김병준 | - |
dc.contributor.googleauthor | 석진명 | - |
dc.contributor.googleauthor | 성정준 | - |
dc.contributor.googleauthor | 남태승 | - |
dc.contributor.googleauthor | 박영은 | - |
dc.contributor.googleauthor | 박진성 | - |
dc.contributor.googleauthor | 김숙자 | - |
dc.contributor.googleauthor | 최영철 | - |
dc.identifier.doi | 10.17340/jkna.2021.2.3 | - |
dc.contributor.localId | A04116 | - |
dc.relation.journalcode | J01836 | - |
dc.subject.keyword | Glycogen storage disease type II | - |
dc.subject.keyword | Alpha-glucosidases | - |
dc.subject.keyword | Enzyme assays | - |
dc.subject.keyword | Genetic testing | - |
dc.contributor.alternativeName | Choi, Young Chul | - |
dc.contributor.affiliatedAuthor | 최영철 | - |
dc.citation.volume | 39 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 75 | - |
dc.citation.endPage | 81 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Neurological Association (대한신경과학회지), Vol.39(2) : 75-81, 2021-05 | - |
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