{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:48:53Z","timestamp":1787014133632,"version":"build-2736575974"},"reference-count":47,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,6,23]],"date-time":"2020-06-23T00:00:00Z","timestamp":1592870400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Pyruvate kinase deficiency (PK deficiency) is a rare disorder caused by compound heterozygosity or homozygosity for\u00a0&gt;\u00a0300 mutations in the\n                      <jats:italic>PKLR<\/jats:italic>\n                      gene. To understand PK deficiency prevalence, we conducted a systematic literature review.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We queried Embase and Medline for peer\u2010reviewed references reporting PK deficiency prevalence\/incidence,\n                      <jats:italic>PKLR<\/jats:italic>\n                      mutant allele frequency (MAF) among the general population, or crude results from which these metrics could be derived.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Of 1390 references screened, 1296 were excluded after title\/abstract review; 60 were excluded after full\u2010text review. Four of the remaining 34 studies were considered high\u2010quality for estimating PK deficiency prevalence. Two high\u2010quality studies identified cases from source populations of known sizes, producing estimates of diagnosed PK deficiency prevalence of 3.2 and 8.5 per million. Another high\u2010quality study derived an estimate of diagnosed PK deficiency prevalence of 6.5 per million by screening jaundiced newborns. The final high\u2010quality study estimated total diagnosed and undiagnosed PK deficiency prevalence to be 51 per million through extrapolation from observed MAFs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We conclude that prevalence of clinically diagnosed PK deficiency is likely between 3.2 and 8.5 per million in Western populations, while the prevalence of diagnosed and undiagnosed PK deficiency could possibly be as high as 51 per million.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ejh.13424","type":"journal-article","created":{"date-parts":[[2020,4,12]],"date-time":"2020-04-12T16:46:19Z","timestamp":1586709979000},"page":"173-184","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":55,"title":["Prevalence of pyruvate kinase deficiency: A systematic literature review"],"prefix":"10.1111","volume":"105","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0939-4902","authenticated-orcid":false,"given":"Matthew H.","family":"Secrest","sequence":"first","affiliation":[{"name":"IQVIA Epidemiology &amp; Drug Safety Cambridge MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mike","family":"Storm","sequence":"additional","affiliation":[{"name":"Agios Pharmaceuticals Inc. 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