Clinical use
Diagnosis of cerebrotendinous xanthomatosis which is a rare familial sterol storage disease characterised by progressive neurological dysfunction, tendon xanthoma and premature atherosclerosis. A block in bile acid synthesis leads to elevated levels of both cholestanol and cholesterol in most body tissues.
Background
5 alpha-cholestan-3-beta-ol (cholestanol) is a 5,6 dihydro derivative of cholesterol. Virtually all cholestanol is produced endogenously from cholesterol. It is excreted via the faecal route as free cholestanol or as the derivative allobile acid.
Reference ranges
Paediatricts: 1.0 – 9.0 umol/L
Adults: 4.0 – 18.0 umol/L
Patient preparation
None required
Specimen requirements
Blood specimen in Lithium Heparin (green top) SST, Plain Tube (red top) or Guthrie card.
Turnaround time
4 weeks
Referred test
Referred test
Location
Paediatric Metabolic Centre