{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T02:52:13Z","timestamp":1791168733200,"version":"4.1.0"},"reference-count":21,"publisher":"The Endocrine Society","issue":"11","license":[{"start":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:00:00Z","timestamp":1791158400000},"content-version":"vor","delay-in-days":10,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of triglyceride (TG) metabolism, with an estimated prevalence of 1 in 100 000 to 1 in 1 000 000. It typically presents in childhood or adolescence, while presentation in infancy is exceedingly rare. Loss-of-function variants in lipoprotein lipase gene account for 60-80% of FCS cases. Other causes of FCS include loss-of-function variants in glycosylphosphatidylinositol-anchored high-density lipoprotein\u2013binding protein 1, apolipoprotein A-V, apolipoprotein C-II, and lipase maturation factor 1 (LMF1) genes. LMF1 variants are an exceedingly rare cause of FCS. We report a rare case of FCS presenting in a 5-month-old infant due to a homozygous variant in the LMF1 gene, detected incidentally. Early diagnosis and timely dietary intervention resulted in significant improvement in serum TG levels and prevented complications like pancreatitis. This case highlights a rare presentation of FCS due to a homozygous LMF1 variant presenting in infancy.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag164","type":"journal-article","created":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T11:49:49Z","timestamp":1780487389000},"source":"Crossref","is-referenced-by-count":0,"title":["A rare case of familial chylomicronemia in infancy due to homozygous\n                    <i>LMF1<\/i>\n                    variant"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8339-6770","authenticated-orcid":false,"given":"Padala Ravi","family":"Kumar","sequence":"first","affiliation":[{"name":"Department of Endocrinology, MKCG Medical College , Berhampur, Odisha 760004 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-7542-8477","authenticated-orcid":false,"given":"Bandana","family":"Dash","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, MKCG Medical College , Berhampur, Odisha 760004 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepak Kumar","family":"Dash","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, MKCG Medical College , Berhampur, Odisha 760004 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debasish","family":"Patro","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, MKCG Medical College , Berhampur, Odisha 760004 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pradosh Kumar","family":"Sahu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, MKCG Medical College , Berhampur, Odisha 760004 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ankeet","family":"Biswas","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, MKCG Medical College , 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