کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3084860 1581273 2014 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A New Cholesterol Biosynthesis and Absorption Disorder Associated With Epilepsy, Hypogonadism, and Cerebro-Cerebello-Bulbar Degeneration
ترجمه فارسی عنوان
اختلال بیوسنتز و اختلال جذب کلسترول جدید در ارتباط با صرع، هیپوگنادیسم و ​​سرطان سلول های بنیادی
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
چکیده انگلیسی

BackgroundCholesterol 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.PatientA 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.ResultsThe 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.ConclusionsA 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 decreased biosynthesis and absorption of cholesterol.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pediatric Neurology - Volume 50, Issue 6, June 2014, Pages 601–604
نویسندگان
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