CYP27A1 and Marinesco-Sjogren syndrome: Plasma biochemistry in MSS patients is reported to be usually normal, and our findings of elevated urea and bilirubin concentrations and ALP activity in association with reductions in plasma CTX and P1NP concentrations in the NfixDel2/Del2 mice may represent important differences to MSS patients, or it may be that such abnormalities do occur in MSS patients but have hitherto not been found.