Table 2 Summary of biochemical and genetic investigations
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)] |