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The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study

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dc.contributor.authorTÜRKDOĞAN, DİLŞAD
dc.contributor.authorsUnver, Olcay; Hacifazlioglu, Nilufer Eldes; Karatoprak, Elif; Gunes, Ayfer Sakarya; Sager, Gunes; Kutlubay, Busra; Sozen, Gulhan; Saltik, Sema; Yilmaz, Kutluhan; Kara, Bulent; Turkdogan, Dilsad
dc.date.accessioned2022-03-12T20:29:28Z
dc.date.available2022-03-12T20:29:28Z
dc.date.issued2016
dc.description.abstractThe aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children with limb-girdle muscle weakness and nonspecific hyperCKemia using the dried blood spot (DBS) test. Seventy-two children from four pediatric neurology departments in Turkey were enrolled in the study: 37 with limb-girdle muscle weakness and 35 with nonspecific hyperCKemia. Acid alpha-glucosidase (GAA) activity Was measured on DBS by tandem mass spectrometry. Six patients tested positively for Pompe disease. In three patients, one with the limb-girdle muscle weakness and two with nonspecific hyperCKemia, this was confirmed by genetic analysis. The overall frequency of late-onset Pompe disease in the study population was 4.2%. The c.1784C>T mutation found in one patient is a new mutation whereas the c.1655T>C mutation detected in the other two patients is not novel. In conclusion, Pompe disease should be suspected in patients with limb-girdle muscle weakness and nonspecific hyperCKemia. The DBS test is a safe and reliable method of diagnosis but must be confirmed by genetic analysis. In patients with a positive DBS test and negative genetic analysis, tissue assay of GAA should be considered. (C) 2016 Published by Elsevier B.V.
dc.identifier.doi10.1016/j.nmd.2016.09.001
dc.identifier.eissn1873-2364
dc.identifier.issn0960-8966
dc.identifier.pubmed27666774
dc.identifier.urihttps://hdl.handle.net/11424/234080
dc.identifier.wosWOS:000387626200012
dc.language.isoeng
dc.publisherPERGAMON-ELSEVIER SCIENCE LTD
dc.relation.ispartofNEUROMUSCULAR DISORDERS
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectLate-onset Pompe disease
dc.subjectLimb-girdle muscle weakness
dc.subjectHyperCKemia
dc.subjectDried blood spots
dc.subjectEnzyme replacement therapy
dc.subjectENZYME REPLACEMENT THERAPY
dc.subjectACID MALTASE DEFICIENCY
dc.subjectNATURAL COURSE
dc.subjectFOLLOW-UP
dc.subjectADULT
dc.subjectMANIFESTATION
dc.subjectALPHA
dc.subjectBLOOD
dc.titleThe frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study
dc.typearticle
dspace.entity.typePublication
local.avesis.id366999ff-b672-44f0-b8ef-81c954616282
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages5
local.journal.quartileQ2
oaire.citation.endPage800
oaire.citation.issue11
oaire.citation.startPage796
oaire.citation.titleNEUROMUSCULAR DISORDERS
oaire.citation.volume26
relation.isAuthorOfPublication0a1599c4-48ff-4aa9-b689-3927c986a650
relation.isAuthorOfPublication.latestForDiscovery0a1599c4-48ff-4aa9-b689-3927c986a650

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