{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T00:21:10Z","timestamp":1779150070942,"version":"3.51.4"},"reference-count":36,"publisher":"Walter de Gruyter GmbH","issue":"0","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,10,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"j_jpem-2018-0280_s_999\"><jats:title id=\"d155681e273\">Background<\/jats:title><jats:p>Familial apo C-II deficiency is a rare hereditary disorder frequently caused by lipoprotein lipase (<jats:italic>LPL<\/jats:italic>) and<jats:italic>APOC2<\/jats:italic>gene mutations. To date, less than 30 patients with familial apo C-II deficiency with 24 different mutations have been identified in the literature. Here, we describe two familial chylomicronemia syndrome cases in infants with two novel mutations of the<jats:italic>APOC2<\/jats:italic>gene.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2018-0280_s_998\"><jats:title id=\"d155681e290\">Case presentation<\/jats:title><jats:p>Case 1, a 46-day-old female, was admitted to our hospital for evaluation due to the lipemic appearance of the blood sample. A clinical examination revealed hepatomegaly and lipemia retinalis. Triglyceride level of 6295 mg\/dL was decreased with a strict low-fat diet, medium-chain triglycerides (MCT) oil-rich formula and omega-3 fatty acid supplementation. Due to low adherence to the diet, TG elevation was detected and fresh frozen plasma (10 mL\/kg\/day) was administered for 2 days. A novel homozygous p.Q25X (c.73C&gt;T) mutation in the<jats:italic>APOC2<\/jats:italic>gene was detected. Case 2, a 10-month-old female patient, referred to our center for the differential diagnosis of hyperlipidemia as her blood sample could not be assessed due to its lipemic appearance. Laboratory examinations showed a TG level of 4520 mg\/dL which was reduced with a low-fat diet, MCT oil-rich formula and omega-3 fatty acid supplementation. Hepatosteatosis and splenomegaly were determined using abdominal sonography. A novel homozygous IVS2+6T&gt;G (c.55+6T&gt;G) mutation in the<jats:italic>APOC2<\/jats:italic>gene was identified.<\/jats:p><\/jats:sec><jats:sec id=\"j_jpem-2018-0280_s_997\"><jats:title id=\"d155681e304\">Conclusions<\/jats:title><jats:p>We describe two novel homozygous mutations (p.Q25X [c.73C&gt;T] and IVS2+6T&gt;G [c.55+6T&gt;G]) in the<jats:italic>APOC2<\/jats:italic>gene in infants with hyperchylomicronemia. To the best of our knowledge, Case 1 is the youngest patient with familial apo C-II deficiency in the literature to date.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2018-0280","type":"journal-article","created":{"date-parts":[[2018,10,11]],"date-time":"2018-10-11T09:01:07Z","timestamp":1539248467000},"source":"Crossref","is-referenced-by-count":2,"title":["Severe hyperchylomicronemia in two infants with novel APOC2 gene mutation"],"prefix":"10.1515","volume":"0","author":[{"given":"Engin","family":"Kose","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Coskun","family":"Armagan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pelin","family":"Teke K\u0131sa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huseyin","family":"Onay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nur","family":"Arslan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref281","first-page":"383","article-title":"No severe bottleneck during human evolution: evidence from two apolipoprotein C-II deficiency alleles","volume":"48","year":"1991","journal-title":"Am J Hum Genet"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.ymgme.2007.10.007","article-title":"Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum","volume":"93","year":"2008","journal-title":"Mol Genet Metab"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jacl.2015.08.002","article-title":"National Lipid Association Annual Summary of Clinical Lipidology 2016","volume":"10","year":"2016","journal-title":"J Clin Lipidol"},{"key":"ref151","first-page":"598","article-title":"Recommendations for severe hypertriglyceridemia treatment, are there new strategies?","volume":"12","year":"2013","journal-title":"Curr Vasc Pharmacol"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jacl.2015.08.002","article-title":"National Lipid Association Annual Summary of Clinical Lipidology 2016","volume":"10","year":"2016","journal-title":"J Clin Lipidol"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1002\/ana.10598","article-title":"Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy","volume":"53","year":"2003","journal-title":"Ann Neurol"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1111\/j.1365-2362.1981.tb01768.x","article-title":"Familial apolipoprotein CII deficiency: plasma lipoproteins and apolipoproteins in heterozygous and homozygous subjects and the effects of plasma infusion","volume":"11","year":"1981","journal-title":"Eur J Clin Invest"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"2969","DOI":"10.1210\/jc.2011-3213","article-title":"Endocrine society. 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