Table 2.
7α12αC4 as a marker for CTX in DBS.
| Concentration of QAO tagged 7α12α-dihydroxy-4-cholesten-3-one (ng/ml)a |
||
|---|---|---|
| Calculated using QAO-d3 7α12αC4 internal standard | Calculated using QAO 7αC4-d7 internal standard | |
| Untreated CTX-affected adult DBS (n = 4) | 2869 ± 802b [1979–3910] |
3236 ± 916b [2095–4259] |
| Untreated CTX-affected newborn DBS (n = 3) | 172 ± 104c [104–291] |
176 ± 101c [101–291] |
| Unaffected newborn DBSd (n = 39) | 4.1 ± 3.4e [0.2–15.6] |
4.8 ± 3.5e [1.2–14.9] |
Mean concentration ± S.D. where possible and [range of results] are given.
a
Non-hydrolyzed sterol.
b
Calculated outside the analytical measurement range.
c
7α12αC4 concentrations for the two older CTX-positive newborn DBS were reported previously to range from 120 to 214 ng/ml. Concentrations obtained on re-analysis were within ± 30% of previously reported concentrations.
d
Unaffected newborn DBS from premature and full term infants were analyzed with no significant differences in concentration noted.
e
7α12αC4 concentrations in n = 6 unaffected newborn DBS were reported previously to range from 12.3–26.3 ng/ml [14].