Table 2.
Plasma and urinary tandem mass spetrometry biomarker results of the 12 studied subjects carrying GLA gene variants.
| Case identifier |
Gender | GLA gene variant |
Plasma biomarkers [nmol/L] | Urinary biomarkers [µg/mmol Cr] | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Lyso-Gb3 m/z 786 |
Analog 758 |
Analog 784 |
Analog 802 |
Analog 804 |
Analog 820 |
Analog 836 |
Gb3 | Lyso-Gb3 m/z 786 |
Analog 758 |
Analog 774 |
Analog 784 |
Analog 800 |
Analog 802 |
Analog 820 |
Analog 836 |
|||
| I | F | p.Arg220Ter | 7,45 | 0,01 | 0,06 | 0,02 | 1,55 | 0,75 | 0 | 36 | 67 | 10 | 35 | 22 | 23 | 168 | 85 | 44 |
| II | M | p.Phe113Leu | 22,17 | 0,04 | 0,20 | 0,13 | 3,07 | 2,76 | 0,35 | 116 | 13 | 35 | 259 | 50 | 74 | 474 | 168 | 101 |
| III | M | p.Asn215Ser | 11,05 | 0,26 | 4,00 | 2,98 | 2,21 | 2,28 | 0,20 | 8 | 16 | 1 | 77 | 14 | 32 | 227 | 116 | 97 |
| IV-P | F | p.Arg118Cys | 0,38 | 0,01 | 0 | 0 | 0 | 0,07 | 0 | 9 | 0 | 0 | 0 | 0 | 0 | 9 | 15 | 45 |
| IV-Fa | M | p.Arg118Cys | 0,37 | 0 | 0 | 0 | 0 | 0,19 | 0 | 15 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 9 |
| V-P | F | p.Arg118Cys | 0,47 | 0 | 0 | 0 | 0 | 0,16 | 0 | 14 | 0 | 0 | 0 | 0 | 0 | 9 | 0 | 24 |
| V-Mo | F | p.Arg118Cys | 0,61 | 0 | 0 | 0 | 0 | 0,30 | 0 | 10 | 0 | 0 | 0 | 0 | 0 | 12 | 0 | 31 |
| VI | F | p.Arg118Cys | 0,37 | 0 | 0 | 0 | 0 | 0,20 | 0 | 8 | 0 | 0 | 0 | 0 | 0 | 4 | 6 | 20 |
| VII | F | p.Asp83Asn | 0,41 | 0 | 0 | 0 | 0 | 0,26 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 8 |
| VIII | M | p.Asn228Ser | 0,30 | 0 | 0 | 0 | 0 | 0,24 | 0,21 | -- | -- | -- | -- | -- | -- | -- | -- | -- |
| IX-P | M | c.−10C>T | 0,36 | 0 | 0 | 0 | 0 | 0,32 | 0 | 4 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 15 |
| IX-Si | F | c.−l0>T | 0,53 | 0 | 0 | 0 | 0 | 0,30 | 0 | 3 | 0 | 0 | 0 | 0 | 0 | 6 | 0 | 22 |
|
Reference Values (Patients >18 years) |
Normal ranges | Normal ranges | ||||||||||||||||
| 0–2.4 | 0 | 0–0.9 | 0 | 0 | 0–0.3 | 0 | 0–25 | 0 | 0 | 0 | 0 | 0 | 0–17 | 0–14 | 0–55 | |||
Case identifiers: roman numerals refer to individual pedigrees, P = proband; Fa = proband’s father; Mo = proband’s mother; Si = proband’s sister. Gender identifiers: M = male / F = female. Cr = creatinine. Missense exonic GLA gene sequence variants are described according to the amino acid single letter code:
Arg = arginine; Phe = phenylalanine; Leu = leucine; Asn = asparagine; Ser = serine; Cys = cysteine; Asp = aspartate; Ter = premature stop codon. C>T = cytosine to thymine transition.
Abnormal biomarker levels are marked as shaded cells.