title: A new cholesterol biosynthesis and absorption disorder associated with epilepsy, hypogonadism, and cerebro-cerebello-bulbar degeneration.
abstract: 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.
  
  
  METHODS
  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 decreased biosynthesis and absorption of cholesterol.
authors.affiliation: Department of Pediatrics and Child Neurology, Faculty of Medicine, Oita University, Yufu, Oita, Japan. Electronic address: kseigo@oita-u.ac.jp.
authors.forename: Seigo
authors.initials: S
authors.lastname: Korematsu
authors.affiliation: Department of Pediatrics and Child Neurology, Faculty of Medicine, Oita University, Yufu, Oita, Japan.
authors.forename: Shin-ichi
authors.initials: S
authors.lastname: Uchiyama
authors.affiliation: Department of Gastroenterogy, Ibaraki Medical Center, Tokyo Medical University, Ibaraki, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Honda
authors.affiliation: Department of Pediatrics and Child Neurology, Faculty of Medicine, Oita University, Yufu, Oita, Japan.
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Izumi
mesh_terms: D015415:Biomarkers / Q000097:blood; D001774:Blood Chemical Analysis; D001921:Brain / Q000254:growth & development / Q000473:pathology; D002526:Cerebellar Diseases / Q000097:blood* / Q000473:pathology; D002784:Cholesterol / Q000096:biosynthesis / Q000097:blood* / Q000378:metabolism; D004827:Epilepsy / Q000097:blood* / Q000473:pathology; D006801:Humans; D007006:Hypogonadism / Q000097:blood* / Q000473:pathology; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D019636:Neurodegenerative Diseases / Q000097:blood* / Q000473:pathology; D055815:Young Adult
chemical_list: D015415:Biomarkers; D002784:Cholesterol
keywords: cerebro-cerebellar-bulbar degeneration; cholesterol metabolism; dysmyelination; hypocholesterolemia (Oita); hypogonadism; intractable epilepsy