Table 1.
Characteristics of patients with citrin deficiency and controls.
| Patients (n = 10) | Controls (n = 35) | P-value | |||
|---|---|---|---|---|---|
| Male/female | 5/5 | 20/15 | |||
| Gestational age (weeks) | 39 ± 1.2 | 39 ± 1.2 | |||
| Birth weight (g) | 2671 ± 237 | 3037 ± 409 | 0.0021 | ||
| Neonatal jaundice | 0/10 | 6/35 | |||
| Newborn screening | |||||
| High citrulline | 5 | 2 | |||
| High galactose and citrulline | 2 | 0 | |||
| High galactose | 1 | 25 | |||
| High galactose-1-phosphate | 0 | 6 | |||
| High phenylalanine | 2 | 2 | |||
| At first visits to our hospital | |||||
| Age (days) | 20.5 ± 13.6 | 19.9 ± 13.2 | |||
| Serum BUN (mg/dL) | 14.4 ± 2.4 | (n = 9) | 8.7 ± 2.6 | (n = 35) | <0.001 |
| Serum creatinine (mg/dL) | 0.27 ± 0.06 | (n = 9) | 0.25 ± 0.07 | (n = 35) | 0.308 |
| Serum BUN/creatinine ratio | 54.8 ± 13.0 | (n = 9) | 38.6 ± 16.5 | (n = 35) | 0.009 |
| Blood galactose (mg/dL) | 18.4 ± 27.1 | (n = 8) | 1.9 ± 3.8 | (n = 31) | 0.152 |
| Plasma citrulline (μM) | 668.4 ± 390.6 | (n = 10) | 39.3 ± 26.7 | (n = 18) | <0.001 |
| Plasma phenylalanine (μM) | 159.0 ± 227.0 | (n = 10) | 76.3 ± 38.1 | (n = 18) | 0.306 |
| Plasma methionine (μM) | 190.6 ± 188.1 | (n = 10) | 39.6 ± 8.9 | (n = 18) | 0.0394 |
| Plasma threonine/serine ratio | 3.78 ± 1.75 | (n = 10) | 1.24 ± 0.66 | (n = 17) | 0.0017 |
Data represent mean ± SD.
Each laboratory value of the patient is described in Supplemental Table. BUN, blood urea nitrogen.