Table 3 Biochemical data of patients with ADSL
From: Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency
Patient | S-Ado urine | SAICAr urine | S-Ado/SAICAr urine | S-Ado CSF | SAICAr CSF | S-Ado/SAICAr CSF | Enzyme catalytic activity | Phenotype |
|---|---|---|---|---|---|---|---|---|
1 | 115.5 | 57.6 | 2 | – | – | – | 81.95 (− 25%) | Moderate/Mild |
2 | – | – | – | 456.7 | – | – | – | Severe |
3 | – | – | – | 856.4 | – | – | – | Severe |
4 | – | – | – | 673.5 | – | – | – | Severe |
5 | Positive° | – | – | – | – | – | – | Severe |
8 | 322.4 | 240.6 | 1.3 | – | – | – | – | Moderate/Mild |
9 | – | – | 1.4 | – | – | – | – | Severe |
10 | 22.3 | 6.2 | 3.6 | – | – | – | – | Very mild |
11 | 19.9 | 5.4 | 3.7 | – | – | – | – | Very Mild |
14 | 208.4 | 223.3 | < 1 | – | – | – | – | Fatal neonatal |
15 | 122.5 | – | – | – | – | – | – | Moderate/Mild |
16 | 469 | – | – | – | – | – | – | Moderate/Mild |
17 | – | – | – | 311 | 374 | 0.8 | – | Severe |
18 | 176 | 72.8 | 2.4 | – | – | – | 74.1 (− 20%) | Moderate/Mild |