title: Monitoring of 7α-hydroxy-4-cholesten-3-one during therapy of cerebrotendinous xanthomatosis: a case report.
abstract: Cerebrotendinous xanthomatosis (CTX) is a rare, inherited autosomal-recessive lipid-storage disorder caused by 27-hydroxylase deficiency. In this study, we report of a 30-year old man with this disorder who was treated using chenodeoxycholic acid, simvastatin, and low-density lipoprotein (LDL) apheresis. The LDL apheresis was performed weekly for nine months. The first subjective improvement was reported by the patient after his fourth LDL-apheresis. Spasticity, gait disturbances, and his entire psychomotoric test results had improved tremendously. His fine motoric skills have been regained. The efficacy of LDL-apheresis was monitored using quantitative determination of 7α-OH-4-cholesten-3-one in plasma based on a LC-MS/MS method. The clearance efficacy of 7α-hydroxy-4-cholesten-3-one from the patient's plasma per LDL-apheresis varied between 8% and 53% but returned to the initial high levels after seven days (mean value 241 ng/mL). A slight negative trend in the plasma concentration could be derived over the period of nine months.
authors.affiliation: Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Regensburg, Regensburg, Germany.
authors.forename: Silke
authors.initials: S
authors.lastname: Matysik
authors.forename: Evelyn
authors.initials: E
authors.lastname: Orsó
authors.forename: Anne
authors.initials: A
authors.lastname: Black
authors.forename: Norbert
authors.initials: N
authors.lastname: Ahrens
authors.forename: Gerd
authors.initials: G
authors.lastname: Schmitz
mesh_terms: D000328:Adult; D001774:Blood Chemical Analysis; D001781:Blood Component Removal; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D002783:Cholestenones / Q000097:blood*; D005500:Follow-Up Studies; D006801:Humans; D008077:Lipoproteins, LDL / Q000097:blood; D008297:Male; D019821:Simvastatin / Q000627:therapeutic use; D016896:Treatment Outcome; D019294:Xanthomatosis, Cerebrotendinous / Q000097:blood* / Q000188:drug therapy / Q000628:therapy*
chemical_list: D002783:Cholestenones; D008077:Lipoproteins, LDL; D002635:Chenodeoxycholic Acid; C002656:7 alpha-hydroxy-4-cholesten-3-one; D019821:Simvastatin