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Table 2 Summary of biochemical and genetic investigations

From: Cerebrotendinous Xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid

  serum cholestanol at diagnosis normal < 5 μmol/L CSF cholestanol
reference range (0.252–0.376 μmol/L) based on healthy controls)
serum Cholestanol after treatment Urine Bile acid alcohol Genetic Confirmation
Patient 1 53 not done 7 High Not done
Patient 2 145 1.06 μmol/L on standard dose, 0.49 μmol/L after CDCA dose increase 10 High CYP27A1: c.1184 + 1G > A(;) 1263 + 1G > A, p.(?)(;)(?)
Patient 3 125 2.5 (μmol/L) before treatment 41 Not done CYP27A1c.157del,p.(Arg53fs)
Patient 4 112 not done not repeated as yet Not done CYP27A1: c.[1183 > T];[1183C > T], p[(Arg395Cys)];p[(Arg395Cys)]