Table 2.
Summary of ethnicity, molecular and cellular aspects of sialuria patients reported to date.
| Patient No. | GNE mutation | Ethnicity | Urinary sialic acid content1 (μmol/mmol creatinine) | Sialic acid content in fibroblasts2 (nmol/mg protein) | Reference |
|---|---|---|---|---|---|
| 1 | R263L | Caucasian (French) | 13-15 g/24h 3 | NR | [78, 79] |
| 2 | R266W | Caucasian (Australian/British) | 8,500-8,900 | NR | [25, 91] |
| 3 | R266Q | Caucasian | 5,436 | 65.2 | [21, 25, 83] |
| 4 | R263L | Caucasian | 10,453 | 95.9 ± 54.3 | [25, 144] |
| 5 | R266Q | Caucasian (Portuguese) | 1,693 | 17.4 ± 7.4 | [81] |
| 6 | R266Q | Caucasian (Belgium) | 8,950-14,680 | NR | [82] |
| 7 | R266Q | Caucasian (Belgium) | 4,278 | NR | [82] |
NR, reported.
1
Urinary free sialic acid normal range: < 74 μmol/mmol creatinine
2
Fibroblast free sialic acid normal range: 0.2-3.2 nmol/mg protein
3
Not reported per mmol creatinine