dupE5-E9 heterozygote | Phenotype | Urine amino acid concentrations (μmol/g creatinine) | ||||
---|---|---|---|---|---|---|
Cystine | Lysine | Arginine | Ornithine | Sum | ||
Type A heterozygotes are those carrying mutations in SLC3A1 other than dupE5-E9. Controls are members of the fully genotyped ICC cystinuria families not carrying the identified type A or type B mutations. | ||||||
*Values above the 95th centile in controls. | ||||||
†These values (mean (SEM)) have been reported previously.29 | ||||||
F, family; n, number of individuals; NA, not analysed; <1, below the level of detection. | ||||||
F14-C119 | non-I | 57 | 481 | 318* | 94* | 950* |
F77-SR | non-I | 218* | 1090* | 33 | 30 | 1371* |
F79-A145 | non-I | 167* | 1595* | 43 | 100* | 1905* |
F79-A148 | non-I | 998* | 1762* | 12 | 133* | 2905* |
F106-D18 | I | 53 | 150 | <1 | <1 | 253 |
F106-D20 | untyped | NA | 345 | <1 | 35 | – |
Type A heterozygote (n)† | I (47) | 70 (7) | 171 (18) | 24 (4) | 26 (4) | 300 (23) |
[5th, 95th centile] | [21, 160] | [28, 359] | [0, 51] | [5, 62] | [100, 555] | |
(+/+) (n)† | Control (83) | 52 (3) | 181 (16) | 17 (3) | 28 (3) | 277 (19) |
[5th, 95th centile] | [23, 109] | [35, 499] | [0, 48] | [7, 70] | [93, 620] |