TABLE 1.
Patient characteristics and diagnostic value of selected features in CSF
| Patient no. | Sex | Age a | Variant in SLC2A1 gene (NM_006516.4/ NP_006507.2) b | CSF glucose (ref) (mM) c | CSF lactate (ref) (μM) c | CSF/blood glucose ratio (ref) c | Clinical phenotype a | Treatment a | Normalized intensity GluA + GalA (ref: 0.268–1.241) g | Normalized intensity Xyl‐Glc (ref: 0.459–1.890) g | Normalized intensity Xyl‐Xyl‐Glc (ref: 0.279–2.705) g |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 9 | c.457C>T (p.Arg153Cys) | 2.0 (2.6–3.8) | 1090 (1170–1850) | 0.37 (0.49–0.79) | Classical d | None | 0.305 | 0.295 | 0.141 |
| 2 | F | 1 |
c.493G>A (p.Val165Ile) |
1.9 (2.6–3.8) | 968 (1090–1800) | 0.37 (0.49–0.79) | Classical d | None | 0.293 | 0.354 | 0.466 |
| 3 f | F | 20 |
c.632C>A (p.Pro211His) |
2.1 (2.2–3.4) | 890 (1000–2200) | 0.39 (na) e | Classical d | Valproic acid | 0.266 | 0.584 | 0.584 |
| 4 f | F | 17 |
c.632C>A (p.Pro211His) |
2.4 (2.2–3.4) | 770 (1000–2200) | 0.46 (na) e | Classical d | None | 0.201 | 0.320 | 0.116 |
| 5 | F | 13 |
c.524G>T (p.Gly175Val) |
1.8 (2.2–3.4) | 810 (1000–2200) | na | Unknown | Carbamazepine | 0.238 | 0.248 | 0.161 |
| 6 | M | 11 |
c.998G>A (p.Arg333Gln) |
2.2 (2.2–3.4) | 1100 (1000–2200) | 0.42 (na) e | Classical d | None | 0.272 | 0.408 | 0.099 |
| 7 | M | 5 |
c.277C>T (p.Arg93Trp) |
1.5 (2.2–3.4) | 800 (1000–2200) | 0.40 (na) e | Classical d | Valproic acid | 0.198 | 0.206 | 0.164 |
| 8 | M | 6 | Missense (na) | 1.1 (2.6–3.8) | 541 (1170–1850) | na | Classical d | None | 0.178 | 1.007 | 0.257 |
| 9 | M | 7 |
c.940G>A (p.Gly314Ser) |
2.4 (2.6–3.8) | 1210 (1170–1850) | 0.50 (0.49–0.79) | Classical d | None | 0.243 | 0.214 | 0.283 |
| 10 | F | 10 |
c.1390G>C (p.Ala464Pro) |
2.3 (2.7–3.9) | 1310 (1260–1990) | 0.42 (0.50–0.81) | Classical d | Ketogenic diet | 0.164 | 0.252 | 0.340 |
| 11 | M | 8 |
c.998G>A (p.Arg333Gln) |
2.0 (2.7–4.0) | 1830 (1200–2100) | 0.29 (>0.6) | Classical d | Valproic acid | 0.207 | 0.189 | 0.117 |
| 12 | F | 6 |
c.26C>T (p.Thr9Met) |
2.1 (2.6–3.8) | 1210 (1170–1850) | 0.40 (0.49–0.79) | Paroxysmal dyskinesia | None | 0.226 | 0.236 | 0.326 |
Note: Boldfaced values are outside reference range.
Abbreviations: F, female; GluA/GalA, gluconic and galactonic acid; M, male; na, not available, ref, reference range; Xyl‐Glc, xylose‐α1,3‐glucose; Xyl‐Xyl‐Glc, xylose‐α1,3‐xylose‐α1,3‐glucose.
Age (in years), phenotype, and treatment at moment of lumbar puncture.
Except for the variant of Patient 10, c.1390G>C (p.Ala646Pro), all variants have been reported previously. 30 , 31
Reference ranges given between brackets are provided by the laboratory that performed the CSF analysis.
Combination of mild to moderate intellectual disability, epilepsy, and movement disorder.
While no reference values are provided, this value is below the 10th percentile described by Leen et al., 6 fitting with GLUT1DS.
Patients 3 and 4 are siblings and have been described previously as P26 and P25, respectively. 31
Reference range is defined by p5–p95 of the control population.