Table 6 Urine amino acid concentration based on Exon/Exon–intron boundary variants.
Urine Amino acids: µmol/day | ||||||||
---|---|---|---|---|---|---|---|---|
Cystine | Ornithine | Lysine | Arginine | |||||
Median | Range | Median | Range | Median | Range | Median | Range | |
Exon variant | 1705.4 | (184.6–5303.4) | 2044.3 | (205.2–7471.7) | 8538.6 | (536.9–36961.6) | 3512.6 | (96.3–12096) |
Exon–intron boundary variant | 3214.8 | (1025.6–4094.2) | 2732.3 | (845.4–3922.7) | 9134.9 | (2411.5–10211.1) | 1169.5 | (555.9–4362.4) |