{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T13:27:20Z","timestamp":1777642040257,"version":"3.51.4"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2005,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Smith\u2010Lemli\u2010Opitz syndrome (SLOS) is an inborn error of cholesterol biosynthesis characterized by developmental delay and multiple malformations.Some of the patients have skin photosensitivity and therefore tend to avoid direct exposure to sunlight.SLOS patients typically have low concentrations of cholesterol and abnormally high concentrations of its precursor 7\u2010dehydrocholesterol (7\u2010DHC) in biological fluids and tissues. 7\u2010DHC is also a precursor in the cutaneous synthesis of vitamin D. Sunlight exposure plays a major role in this pathway and reactions transforming 7\u2010DHC into vitamin D and then into 25\u2010hydroxyvitamin D are known not to be specifically regulated. The aim of this study was to evaluate vitamin D status in SLOS patients. We measured 25\u2010hydroxyvitamin D and 1,25\u2010dihydroxyvitamin D serum concentrations and markers of calcium metabolism in five SLOS patients.Despite abnormally high concentrations of 7\u2010DHC, circulating concentrations of vitamin D metabolites were not significantly different from appropriate controls matched for sex, age and season of blood collection. The analysis of historical serum samples stored in our laboratory from the same cases plus 10 other SLOS patients further supported these findings. Our data suggest that SLOS patients have a peculiar vitamin D metabolism that protects them from vitamin D intoxication.This appears to be due in most cases to decreased transformation of 7\u2010DHC into 25\u2010hydroxyvitamin D, perhaps depending on reduced sunlight exposure as a consequence of photosensitivity. Possible alternative mechanisms are discussed.<\/jats:p>","DOI":"10.1007\/s10545-005-3676-8","type":"journal-article","created":{"date-parts":[[2005,2,8]],"date-time":"2005-02-08T17:14:47Z","timestamp":1107882887000},"page":"69-80","source":"Crossref","is-referenced-by-count":22,"title":["Vitamin D status in patients affected by Smith\u2010Lemli\u2010Opitz syndrome"],"prefix":"10.1002","volume":"28","author":[{"given":"M.","family":"Rossi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Federico II University Via Pansini 5 Naples 80131 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Federico","sequence":"additional","affiliation":[{"name":"Department of Reproductive and Adolescent Medicine University of Pisa Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Corso","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Medical Biotechnology Federico II University Naples"},{"name":"Clinical Biochemistry University of Foggia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Parenti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Federico II University Via Pansini 5 Naples 80131 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Battagliese","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Federico II University Via Pansini 5 Naples 80131 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. 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