Table 1 Demographic and clinical data.
Characteristic | Value |
|---|---|
Number of patients (N) | 101 |
Median age at presentation (years) (range) | 17.0 (0–58) |
Less than 10 years/teen age/20 s/30 s and over | 38/24/25/13(%) |
Male | 17.0 (0–48) |
Female | 16.5 (0–58) |
Sex | male (N = 65)/ female (N = 36) |
Family Histroy (1st sibling/2nd sibling) | 29% (19%/10%) |
Ethnicity: Japanese | 100% |
Median age at follow-up (years) | 33.0 (0.3–78.0) |
Median time from initial symptoms to follow-up (years) | 14.0 (0.0–56.0) |
Cystine (μmol/day) | 1745.7 (184.6—5303.4) |
Ornithine (μmol/day) | 2044.3 (205.2—7471.7) |
Lysine (μmol/day) | 8646.7 (536.9—36961.6) |
Arginine (μmol/day) | 3334.2 (96.3—12096.0) |
