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コレマツ セイゴ
KOREMATSU Seigo
是松 聖悟 所属 埼玉医科大学 医学部 総合医療センター 小児科（小児科､総合周産期母子医療センター新生児科、小児救命救急センター） 職種 教授 |
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| 論文種別 | 学術雑誌(原著) |
| 言語種別 | 英語 |
| 査読の有無 | 査読あり |
| 表題 | A new cholesterol biosynthesis and absorption disorder associated with epilepsy, hypogonadism, and cerebro-cerebello-bulbar degeneration. |
| 掲載誌名 | 正式名：Pediatric neurology ISSNコード：08878994 |
| 出版社 | ELSEVIER SCIENCE INC |
| 巻・号・頁 | 50(6),601-4頁 |
| 著者・共著者 | Seigo Korematsu,Shin-ichi Uchiyama,Akira Honda,Tatsuro Izumi |
| 発行年月 | 2014/06 |
| 概要 | BACKGROUND: Cholesterol is one of the main components of human cell membranes and constitutes an essential substance in the central nervous system, endocrine system, and its hormones, including sex hormones. PATIENT: A 19-year-old male patient presented with failure to thrive, psychomotor deterioration, intractable epilepsy, hypogonadism, and cerebro-cerebello-bulbar degeneration. His serum level of cholesterol was low, ranging from 78.7 to 116.5 mg/dL. RESULTS: The serum concentrations of intermediates in the cholesterol biosynthesis pathway, such as 7-dehydrocholesterol, 8-dehydrocholesterol, desmosterol, lathosterol, and dihydrolanosterol, were not increased. In addition, the levels of the urinary cholesterol biosynthesis marker mevalonic acid, the serum cholesterol absorption markers, campesterol and sitosterol, and the serum cholesterol catabolism marker, 7α-hydroxycholesterol, were all low. CONCLUSIONS: A serum biomarker analysis indicated that the patient's basic abnormality differed from that of Smith-Lemli-Opitz syndrome and other known disorders of cholesterol metabolism. Therefore, this individual may have a new metabolic disorder with hypocholesterolemia because of dec |
| DOI | 10.1016/j.pediatrneurol.2014.01.050 |
| PMID | 24726258 |