Patient | Age at onset | Sex | Duration of illness preop/postop (months) | CT/MRI | SPECT | ASS activity in liver (U/mg protein) | Plasma (on admission) | Serum PSTI (ng/ml) | (*After transplantation) | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Citrulline (nmol/ml) | Ammonia (μg/dl) | Arginine (nmol/ml) | Citrulline (nmol/ml) | Ammonia (μg/dl) | Arginine (nmol/ml) | ||||||||||||||
1 | 24 | Male | 7 | N | — | 0.0039 | 571.0 | 317 | 297.9 | — | — | — | — | ||||||
2 | 25 | Male | 43 | N | N | 0.0030 | 794.6 | 137 | 119.7 | 14.0 | — | — | — | ||||||
3 | 12 | Female | 118/29 | A | A | 0.0068 | 174.9 | 685 | 128.3 | 120.0 | 37.4 | 64 | 113.4 | ||||||
4 | 51 | Female | 8/6 | A | A | 0.00032 | 668.5 | 520 | 242.2 | 21.0 | 28.6 | 34 | 60.9 | ||||||
5 | 29 | Male | 21 | N | A | 0.00167 | 1500.6 | 118 | 1589.0 | 13.0 | — | — | — | ||||||
6 | 24 | Male | 7/65 | N | — | 0.0018 | 782.2 | 165 | 279.1 | 123.2 | 55.1 | 50.0 | 124.6 | ||||||
7 | 44 | Male | 11/50 | N | — | 0.0044 | 167.4 | 172 | 154.4 | 260.0 | 36.8 | 34.0 | 102.9 | ||||||
8 | 23 | Female | 7/32 | N | — | 0.0012 | 207.5 | 213 | 111.5 | — | 28.5 | 30 | 144.0 | ||||||
9 | 17 | Female | 5/26 | A | A | 0.0013 | 498.1 | 201 | 199.6 | 29.0 | 34.6 | 103 | 70.8 | ||||||
10 | 20 | Male | 144/13 | A | A | 0.00103 | 404.2 | 91 | 166.9 | 35.0 | 54.0 | 74 | 105.9 |
N=Normal; A=abnormal; —=not examined.
The following urea cycle enzyme activities were assayed using the biopsied liver tissue: carbamylphosphate synthetase, ornithine transcarbamylase, argininosuccinate synthetase (ASS), argininosuccinate lyase, arginase, and except ASS all other enzyme activities were normal in these 10 patients.
Normal values: ASS 0.033±0.012 U/mg protein, citrulline: 10.8–36.5 nmol/ml, ammonia: <41 μg/dl, arginine: 39.6–138.4 nmol/ml, PSTI: 4.6–12.2 ng/ml.