{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:48:22Z","timestamp":1787021302148,"version":"build-2736575974"},"reference-count":44,"publisher":"The Endocrine Society","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Citrin-deficient infants present neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), which resolves at 12 months. Thereafter, they have normal liver function associated with hypercholesterolemia, and a preference for lipid-rich carbohydrate-restricted diets. However, some develop adult-onset type II citrullinemia, which is associated with metabolic abnormalities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To identify the causes of hypercholesterolemia in citrin-deficient children post-NICCD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design and Setting<\/jats:title>\n                    <jats:p>We determined the concentrations of sterol markers of cholesterol synthesis, absorption, and catabolism by liquid chromatography\u2013electrospray ionization\u2013tandem mass spectrometry and evaluated serum lipoprotein profiles.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Subjects<\/jats:title>\n                    <jats:p>Twenty citrin-deficient children aged 5 to 13 years and 37 age-matched healthy children.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Intervention<\/jats:title>\n                    <jats:p>None.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main Outcome Measures<\/jats:title>\n                    <jats:p>Relationship between serum lipoproteins and sterol markers of cholesterol metabolism.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The citrin-deficient group had a significantly higher high-density lipoprotein cholesterol (HDL-C) concentration than did the control group (78 \u00b1 11 mg\/dL vs 62 \u00b1 14 mg\/dL, P &amp;lt; 0.001), whereas the two groups had similar low-density lipoprotein cholesterol and triglyceride concentrations. The concentrations of markers of cholesterol synthesis (lathosterol and 7-dehydrocholesterol) and bile acids synthesis (7\u03b1-hydroxycholesterol and 27-hydroxycholesterol) were 1.5- to 2.8-fold and 1.5- to 3.9-fold, respectively, higher in the citrin-deficient group than in the control group. The concentration of 24S-hydroxycholesterol, a marker of cholesterol catabolism in the brain, was 2.5-fold higher in the citrin-deficient group. In both groups, the HDL-C concentration was significantly positively correlated with that of 27-hydroxycholesterol, the first product of the alternative bile acid synthesis pathway.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>HDL-C and sterol marker concentrations are elevated in citrin-deficient children post-NICCD. Moreover, cholesterol synthesis and elimination are markedly enhanced in the liver and brain of citrin-deficient children.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/jc.2017-02664","type":"journal-article","created":{"date-parts":[[2018,4,6]],"date-time":"2018-04-06T16:21:32Z","timestamp":1523031692000},"page":"2488-2497","source":"Crossref","is-referenced-by-count":6,"title":["Cholesterol Metabolism Is Enhanced in the Liver and Brain of Children With Citrin Deficiency"],"prefix":"10.1210","volume":"103","author":[{"given":"Satoshi","family":"Hirayama","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory Medicine, Juntendo University School of Medicine, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hironori","family":"Nagasaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Takarazuka City Hospital, Takarazuka, 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