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.
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.
Paediatricts: 1.0 – 9.0 umol/L
Adults: 4.0 – 18.0 umol/L
Blood specimen in Lithium Heparin (green top) SST, Plain Tube (red top) or Guthrie card.
Paediatric Metabolic Centre