TABLE I.
Urinary Sphingolipids in Patient 1 (pSap-d), Patient 2 (SapB-d), and in Pathologic and Normal Controls (ESI-MS/MS Determination)
| Lipid valuesa expressed as µg/100 µg sphingomyelin | |||||
|---|---|---|---|---|---|
| Sulfatide | Globotriaosylceramide | Lactosyl- and digalactosylceramide | Monohexosylceramide (mainly glucosylceramide) | Ceramide | |
| Patient 1 (pSap-d) 44-day-old | 67c | 208c | 45c | 26c | 17c |
| Patient 2 (SapB-d) 50-month-old | 145c | 51c | 35c | 14c | 6.3 |
| Metachromatic leukodystrophy 1- to 5-year-old (n = 6) | 120c ± 38d | 8.8 ± 3.3 | 14 ± 5.3 | 6.2 ± 1.7 | 3.8 ± 1.1 |
| Fabry disease males 24- to 54-year-old (n = 10) | 6.8 ± 2.5d | 201c ± 102 | 35e ± 19 | 3.5 ± 1.4 | 4.8 ± 1.7 |
| Infantile/late-infantile controls 0.5- to 12-year-old (n = 16) | 14 ± 5.2d | 15 ± 8.2 | 10.2 ± 3.0 | 4.4 ± 1.0 | 4.3 ± 1.8 |
| Adult controls males and femalesb 17- to 60-year-old (n = 12) | 9.7 ± 2.5d | 21 ± 14 | 16 ± 6.1 | 4.4 ± 1.4 | 5.8 ± 2.8 |
a
Mean of three determinations for patients 1 and 2. For the analytical reproducibility, see Patients and Methods Section.
b
Fabry carrier status was excluded in control females molecularly.
c
Statistical significance P < 0.001.
d
Standard deviation.
e
Statistical significance P < 0.01.