Table 1 Biochemical profile, treatment, and dietary regimen of OTC deficient patients in Family 1 and Family 2
|  | Sex | Age (years) | Symptoms | Blood ammonia (n.v.<50 µmol/L) | Plasma glutamine (n.v. 200–800 µmol/L) | Plasma citrulline (n.v. 10–35 µmol/L) | Plasma arginine (n.v. 30–90 µmol/L) | Urinary orotic acid (0.1–10 mol/mmol creat) | Therapy | Protein restricted diet |
|---|---|---|---|---|---|---|---|---|---|---|
| Â | Family 1 | |||||||||
II-1 | M | 73 | migraine, irritabilty | 22 | 714 | 18 | 47 | 0.5 | arginine | yes |
III-1 | F | 43 | coma, death | 805 | 1295 | 21 | 63 | 208 | no | no |
III-4 | F | 27 | nausea, migraine, irritabilty | 22 | 712 | 28 | 43 | 0.5 | arginine | yes |
III-6 | F | 29 | nausea, migraine, irritabilty | 22 | 603 | 10 | 22 | 0.3 | arginine | yes |
| Â | Family 2 | |||||||||
II-5 | M | 74 | confusion, abnormal behaviour | 76 | 1279 | 14 | 50 | 3.0 | arginine, GPB | yes |
III- 1 | F | 58 | no | 6 | 674 | 25 | 74 | not available | no | no |
III-2 | F | 56 | no | 7.7 | 790 | 36 | 45 | not available | no | no |
III-4 | F | 51 | migraine | 26 | 806 | 24 | 54 | 0.8 | arginine | yes |
III-8 | F | 50 | migraine, vomiting | 26 | 876 | 26 | 48 | 0.4 | arginine | yes |
IV-2 | F | 31 | no | 14 | 753 | 29 | 84 | not available | no | no |
IV-3 | F | 31 | no | 13 | 658 | 13 | 34 | not available | no | no |
IV-4 | F | 23 | no | 22 | 787 | 26 | 80 | not available | no | no |
V-3 | M | 4 | no | 26 | 598 | 21 | 47 | 0.6 | no | no |