{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T15:21:13Z","timestamp":1767626473751,"version":"build-2065373602"},"reference-count":5,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,4,24]],"date-time":"2024-04-24T00:00:00Z","timestamp":1713916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The mitochondrial phosphate carrier is critical for adenosine triphosphate synthesis by serving as the primary means for mitochondrial phosphate import across the inner membrane. Variants in the <jats:italic>SLC25A3<\/jats:italic> gene coding mitochondrial phosphate carrier lead to failure in inorganic phosphate transport across mitochondria. The critical dependence on mitochondria as an energy source is especially evident in tissues with high\u2010energy demands such as the heart, muscle; defects in the mitochondrial energy production machinery underlie a wide range of primary mitochondrial disorders that present with cardiac and muscle diseases. The characteristic clinical picture of a prominent early\u2010onset hypertrophic cardiomyopathy and lactic acidosis may be an indication for analysis of the <jats:italic>SLC25A3<\/jats:italic> gene. Here, described a patient with suspicion of infantile Pompe disease due to involvement of heart and muscle and high\u2010level of plasma creatinine kinase but finally diagnosed mitochondrial phosphate\u2010carrier deficiency.<\/jats:p>","DOI":"10.1002\/ajmg.a.63643","type":"journal-article","created":{"date-parts":[[2024,4,24]],"date-time":"2024-04-24T13:08:19Z","timestamp":1713964099000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Mitochondrial phosphate\u2010carrier deficiency mimicking infantile\u2010onset Pompe disease"],"prefix":"10.1002","volume":"194","author":[{"given":"Aynur","family":"K\u00fc\u00e7\u00fckcongar Yava\u015f","sequence":"first","affiliation":[{"name":"Department of Pediatrics Ankara Bilkent City Hospital  Ankara Turkey"},{"name":"Department of Pediatric Metabolic Diseases Ankara Bilkent City Hospital  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1224-5756","authenticated-orcid":false,"given":"Hacer","family":"Basan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ankara Bilkent City Hospital  Ankara Turkey"},{"name":"Department of Pediatric Metabolic Diseases Ankara Bilkent City Hospital  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serpil","family":"Din\u00e7er","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ankara Bilkent City Hospital  Ankara Turkey"},{"name":"Department of Pediatric Metabolic Diseases Ankara Bilkent City Hospital  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6197-0647","authenticated-orcid":false,"given":"Berrak","family":"Bilginer G\u00fcrb\u00fcz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ankara Bilkent City Hospital  Ankara Turkey"},{"name":"Department of Pediatric Metabolic Diseases Ankara Bilkent City Hospital  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c7i\u011fdem Seher","family":"Kasapkara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ankara Bilkent City Hospital  Ankara Turkey"},{"name":"Department of Pediatric Metabolic Diseases Ankara Bilkent City Hospital  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,4,24]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_6_2_1","DOI":"10.1007\/8904_2014_364"},{"doi-asserted-by":"publisher","key":"e_1_2_6_3_1","DOI":"10.1136\/adc.2009.168096"},{"doi-asserted-by":"publisher","key":"e_1_2_6_4_1","DOI":"10.1086\/511788"},{"doi-asserted-by":"publisher","key":"e_1_2_6_5_1","DOI":"10.1016\/j.nmd.2011.06.005"},{"doi-asserted-by":"publisher","key":"e_1_2_6_6_1","DOI":"10.3390\/biom10040655"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63643","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,9]],"date-time":"2024-10-09T15:25:23Z","timestamp":1728487523000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63643"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,24]]},"references-count":5,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1002\/ajmg.a.63643"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63643","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2024,4,24]]},"assertion":[{"value":"2023-12-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-24","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63643"}}