Table 2.
Biochemical and molecular features
| Biochemical | Molecular | ||||||
|---|---|---|---|---|---|---|---|
| Amino acidsa | SLC3A1 | Exon | SLC9A7 | ||||
| Cases | Cys. | Arg. | Orn. | Lys. | |||
| Case 1 | 160 | 790 | 177 | 1179 | |||
| Case 2 | 98 | 337 | 163 | 267 | c.1711 T > A p.571Cys571Ser | 10 | |
| Case 3 | 310 | 3885 | 508 | 772 | c.1711 T > A p.571Cys571Ser | 10 | |
| Case 4 | 211 | 558 | 350 | 718 | |||
| Case 5 | 211 | 224 | 97 | 357 | 11 | c.1166 C > T p.Thr389Met | |
| Case 6 | 177 | 557 | 235 | 594 | c.1400 T > A p.Met467Lys | 8 | |
| Case 7 | 112 | 244 | 108 | 197 | c.1400 T > A p.Met467Lys | 8 | |
| Case 8 | 93 | 177 | 83 | 158 | c.1400 T > A p.Met467Lys | 8 | |
aCut off: cystine: 4–12 μmol/mmol crea.; ornithine: 0–6 μmol/mmol crea.; arginine 0–6 μmol/mmol crea.; and lysine: 10–56 μmol/mmol crea