{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T02:16:35Z","timestamp":1774923395198,"version":"3.50.1"},"reference-count":30,"publisher":"BMJ","issue":"12","funder":[{"DOI":"10.13039\/100004329","name":"Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2019,6,20]]},"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Adult-onset inherited errors of metabolism can be difficult to diagnose. Some cases of potentially treatable myopathy are caused by autosomal recessive acid \u03b1-1,4 glucosidase (acid maltase) deficiency (Pomp\u00e9 disease). This study investigated whether screening of asymptomatic patients with elevated creatine kinase (CK) could improve detection of Pomp\u00e9 disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Pathology databases in six hospitals were used to identify patients with elevated CK results (&gt;2\u00d7 upper limit of normal). Patients were recalled for measurement of acid \u03b1-1,4 glucosidase activity in dried blood spot samples.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Samples were obtained from 812 patients with elevated CK. Low \u03b1-glucosidase activity was found in 13 patients (1.6%). Patients with neutropaenia (n=4) or who declined further testing (n=1) were excluded. Confirmation plasma specimens were obtained from eight individuals (1%) for a white cell lysosomal enzyme panel, and three (0.4%) were confirmed to have low \u03b1-1,4-glucosidase activity. One patient was identified as a heterozygous carrier of an acid \u03b1-1,4 glucosidase c.-32\u201313 G&gt;T mutation. Screening also identified one patient who was found to have undiagnosed Fabry disease and one patient with McArdle\u2019s disease. One patient later presented with Pomp\u00e9\u2019s after an acute illness. Including the latent case, the frequency of cases at 0.12% was lower than the 2.5% found in studies of patients with raised CK from neurology clinics (p&lt;0.001).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Screening pathology databases for elevated CK may identify patients with inherited metabolic errors affecting muscle metabolism. However, the frequency of Pomp\u00e9\u2019s disease identified from laboratory populations was less than that in patients referred for neurological investigation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jclinpath-2019-205711","type":"journal-article","created":{"date-parts":[[2019,7,15]],"date-time":"2019-07-15T17:15:43Z","timestamp":1563210943000},"page":"805-809","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Identification of patients with Pomp\u00e9 disease using routine pathology results: PATHFINDER (creatine kinase) study"],"prefix":"10.1136","volume":"72","author":[{"given":"Tim M","family":"Reynolds","sequence":"first","affiliation":[{"name":"Clinical Chemistry, Queen's Hospital, Burton-on-Trent, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Tylee","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn","family":"Booth","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2756-372X","authenticated-orcid":false,"given":"Anthony S","family":"Wierzbicki","sequence":"additional","affiliation":[{"name":"Metabolic Medicine\/Chemical Pathology, Guy's & St Thomas' Hospitals, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,7,15]]},"reference":[{"key":"2025121323561380000_72.12.805.1","first-page":"82","article-title":"Clinical features of Pompe disease","volume":"32","author":"Manganelli","year":"2013","journal-title":"Acta Myol"},{"key":"2025121323561380000_72.12.805.2","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1007\/s13311-018-0655-y","article-title":"Pompe Disease: From Basic Science to Therapy","volume":"15","author":"Kohler","year":"2018","journal-title":"Neurotherapeutics"},{"key":"2025121323561380000_72.12.805.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2014.04.010"},{"key":"2025121323561380000_72.12.805.4","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.jpeds.2018.02.007","article-title":"Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening","volume":"198","author":"Herbert","year":"2018","journal-title":"J Pediatr"},{"key":"2025121323561380000_72.12.805.5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2796.2008.01966.x"},{"key":"2025121323561380000_72.12.805.6","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1016\/j.nmd.2017.03.010","article-title":"Screening for Pompe disease in a Portuguese high risk population","volume":"27","author":"Almeida","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"2025121323561380000_72.12.805.7","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1007\/s10545-018-0243-7","article-title":"Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study","volume":"41","author":"Semplicini","year":"2018","journal-title":"J Inherit Metab Dis"},{"key":"2025121323561380000_72.12.805.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.03.002"},{"key":"2025121323561380000_72.12.805.9","unstructured":"Pathology Harmony Group . 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