Table 1.
Characteristics of UCDC Longitudinal Study Cohort of subjects with arginase deficiency
| Diagnosis | Number assessed | Mean (range) or % |
|---|---|---|
| Age at first symptoms | 19 | 20.3 months (0–72 months) |
| Age at diagnosis | 22 | 39.1 months (0–144 months) |
| Age at most recent visit | 22 | 177 months (1–600 months) |
| Growth parameters (ages 2–20 years) | ||
| Mean weight Z-score | 13 | −0.36 (−2.36 to 1.22) |
| Mean height Z-score | 13 | −1.19 (−4.27 to 1.23) |
| FOC < 3rd %tile | 11 | 9% |
| Treatment | ||
| Presence of one or more hyperammonemia episodes | 22 | 55% |
| Nitrogen-scavenging agents | 22 | 86% |
| Liver transplantation | 22 | 5% |
| Neurologic phenotype | ||
| Abnormal tone | 21 | 62% |
| Abnormal reflexes | 21 | 52% |
| Seizures | 22 | 45% |
| Intellectual disability or developmental delaya | 19 | 89% |
| Non-ambulatoryb | 15 | 60% |
aData for patients 6 months old or greater were used.
bData for patients 3 years and older were used.