Table 1.

Relative concentrations and Mann-Whitney U values for lipid analytes in urine from controls and Fabry heterozygotes and hemizygotes.

AnalytesMRM,1m/z valuesMean (SD) relative concentrations2Mann-Whitney U values3
Controls (n = 24)Heterozygotes (n = 13)Hemizygotes (n = 15)Controls vs heterozygotesControls vs Fabry patients
Cer C16:0538.7/264.430 (34)32 (15)43 (24)95734
Cer C24:0650.7/264.422 (16)14 (5)26 (14)90107
Cer C24:1648.7/264.410 (7)8 (3)21 (14)141604
GC C16:0700.6/264.450 (56)35 (13)44 (27)133152
GC C22:0784.7/264.448 (31)26 (18)36 (15)624109
GC C24:0812.7/264.441 (17)27 (16)33 (14)634119
GC C24:1810.8/264.418 (10)13 (6)18 (8)89148
LC C16:0862.4/264.4160 (84)540 (419)458 (424)375634
LC C20:0918.7/264.4133 (104)128 (103)274 (144)128694
LC C22:0946.7/264.4371 (342)328 (318)563 (288)107805
LC C22:0-OH962.7/264.4145 (54)168 (115)533 (362)12571g
LC C24:0974.8/264.4100 (39)204 (121)618 (478)62424
LC C24:1972.8/264.487 (37)285 (206)398 (220)34424
CTH C16:01024.8/264.4131 (99)296 (260)2097 (1616)87354
CTH C18:01052.7/264.498 (47)102 (81)888 (639)126334
CTH C20:01080.9/264.4130 (102)143 (120)1401 (1066)128354
CTH C22:01108.9/264.499 (40)281 (261)3619 (2804)684264
CTH C24:01136.9/264.4121 (47)289 (256)4484 (3623)785114
CTH C24:11134.9/264.486 (48)338 (296)3992 (3073)43444
SM C16:0703.9/184.1454 (184)271 (112)337 (80)424704
SM C22:0787.8/184.1386 (105)224 (100)226 (48)47404
SM C24:0815.8/184.1336 (111)161 (104)181 (53)43444
Cer (total)61 (54)53 (21)90 (49)119825
GC (total)158 (110)101 (50)131 (61)835129
LC (total)996 (577)1654 (952)2844 (1510)775264
CTH (total)665 (345)1450 (1227)16 481 (12 606)97194
SM (total)1175 (375)656 (307)744 (165)424124
CTH C24:1/SM C22:00.2 (0.1)1.7 (1.8)17.2 (12.7)22404
LC C24:1/GC C24:02.1 (0.8)12.4 (9.5)115.4 (81.6)3404
PC (total)178 (96)814 (834)175 (104)