{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T10:04:31Z","timestamp":1784714671816,"version":"3.55.0"},"reference-count":32,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Medicine High Impact Case Reports"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>Primary carnitine deficiency (PCD) is a rare autosomal recessive disorder caused by loss of function mutations in the solute carrier family 22 member 5 ( SLC22A5) gene that encodes a high-affinity sodium-ion\u2013dependent organic cation transporter protein (OCTN2). Reduced carnitine transport results in diminished fatty acid oxidation in heart and skeletal muscle and carnitine wasting in urine. We present a case of PCD diagnosed in an adult female after a positive newborn screen (NBS) for PCD that was not confirmed on follow-up testing. The mother was referred for evaluation of persistent fatigue and possible hypothyroidism even though all measurements of thyroid-stimulating hormone were well within the range of 0.4 to 2.5 mIU\/L expected for reproductive-age women. She was found to have unequivocally low levels of both total carnitine and carnitine esters, and genetic testing revealed compound heterozygosity for 2 SLC22A5 mutations. One mutation (c.34G&gt;A [p.Gly12Ser]) is a known missense mutation with partial OCTN2 activity, but the other mutation (c.41G&gt;A [p.Trp14Ter]) is previously unreported and results in a premature stop codon and truncated OCTN2. This case illustrates that some maternal inborn errors of metabolism can be identified by NBS and that maternal carnitine levels should be checked after a positive NBS test for PCD.<\/jats:p>","DOI":"10.1177\/23247096211019543","type":"journal-article","created":{"date-parts":[[2021,5,25]],"date-time":"2021-05-25T06:56:58Z","timestamp":1621925818000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation"],"prefix":"10.1177","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9121-0166","authenticated-orcid":false,"suffix":"IV","given":"Michael","family":"Jakoby","sequence":"first","affiliation":[{"name":"Southern Illinois University, Springfield, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amruta","family":"Jaju","sequence":"additional","affiliation":[{"name":"Southern Illinois University, Springfield, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aundrea","family":"Marsh","sequence":"additional","affiliation":[{"name":"Southern Illinois University, Springfield, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8457-599X","authenticated-orcid":false,"given":"Andrew","family":"Wilber","sequence":"additional","affiliation":[{"name":"Southern Illinois University, Springfield, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2021,5,25]]},"reference":[{"key":"bibr1-23247096211019543","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.5.2356"},{"key":"bibr2-23247096211019543","doi-asserted-by":"publisher","DOI":"10.1038\/5030"},{"key":"bibr3-23247096211019543","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2016.01.023"},{"key":"bibr4-23247096211019543","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.07.009"},{"key":"bibr5-23247096211019543","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0527-9"},{"key":"bibr6-23247096211019543","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.02.002"},{"key":"bibr7-23247096211019543","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2011_52"},{"key":"bibr8-23247096211019543","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1320.004"},{"key":"bibr9-23247096211019543","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181c5e6f7"},{"key":"bibr10-23247096211019543","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.12.015"},{"key":"bibr11-23247096211019543","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.10.003"},{"key":"bibr12-23247096211019543","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.198"},{"key":"bibr13-23247096211019543","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21311"},{"key":"bibr14-23247096211019543","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.199"},{"key":"bibr15-23247096211019543","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23315"},{"key":"bibr16-23247096211019543","unstructured":"ARUP Laboratories. 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