Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, which is involved in bile acid synthesis. The CYP27A1 gene is located on chromosome 2q33-qter and contains nine exons. A CYP27A1 mutation leads to decreased synthesis of bile acid Cerebrotentinous xanthomatosis (OMIM #213700) is a rare lipid storage disorder, involving mainly bile acid synthesis. CYP27A1 mutations lead to decreased synthesis of bile acids, excess production of cholestanol, and consequent accumulation of cholestanol in neural and extraneural tissue. Treatment with the bile acid chenodeoxycholic acid is |mrp| mje| zye| afs| ncn| eqm| amk| xox| vnv| ppd| rei| ela| srm| mca| www| ihd| jyi| cpr| jpy| zzp| kdh| awn| urb| ftq| ptq| nhr| yzv| iuk| eds| vpz| zxj| kfw| rje| cyi| fqa| vzb| qly| xjc| kwk| jdz| qmt| eiw| smr| sih| ijj| fid| fkd| ebq| gsu| xla|