Table 4 Aminoacid concentration based on Genes, Genotype and p.(Pro482Leu) variant.
Urine Amino acids: µmol/day | ||||||||
|---|---|---|---|---|---|---|---|---|
Cystine | Ornithine | Lysine | Arginine | |||||
Median | Range | Median | Range | Median | Range | Median | Range | |
Based on genes | ||||||||
SLC3A1 | 1357.2 | (186.9–3117.9) | 1692.6 | (861.3–3848.1) | 7051.8 | (5307.9–12456.4) | 2682.7 | (323.4–4590.5) |
SLC7A9 | 1832.2 | (184.6–5303.4) | 2020.15 | (205.2–7471.7) | 8787.8 | (536.9–36961.6) | 3334.2 | (96.3–12096) |
SLC3A1/SLC7A9 | 1434 | (1037.3–3722.9) | 3174.4 | (2302.1–4316.8) | 8144 | (1300.2–13826.2) | 3495.9 | (2269–5996.8) |
Based on genotype | ||||||||
AA | 1230.6 | (186.9–3117.9) | 1355.8 | (861.3–3848.1) | 5631.6 | (5307.9–9223.1) | 1002.9 | (323.4–4590.5) |
BB | 1815.45 | (184.6–5303.4) | 2036.8 | (205.2–7417.7) | 8858.5 | (536.9–36,961.6) | 3334.2 | (150.4–12096) |
AAB/BBA | 1434 | (1037.3–3722.9) | 3174.4 | (2302.1–4316.8) | 8144 | (1300.2–13826.2) | 3495.9 | (2269–5996.8) |
A | 3034.6 | (3034.6–3034.6) | 2029.4 | (2029.4–2029.4) | 12,456.4 | (12456.5–12456.5) | 4425.4 | (4425.4–4425.4) |
B | 1968.8 | (592.8–4094.2) | 1616.4 | (278.3–2843) | 8576.3 | (3038.4–10211.1) | 555.9 | (96.3–5037.6) |
Based on p.(Pro482Leu) | ||||||||
p.(Pro482Leu) Homo | 1705.15 | (184.6–4368) | 2195.6 | (205.2–4316.8) | 8858.5 | (536.9–17412) | 3423.4 | (150.4–6531) |
p.(Pro482Leu) compound hetero | 2359.3 | (851–5303.4) | 2183.1 | (716–7471.7) | 8970.1 | (2968.4–36961.6) | 3875.3 | (1416.6–12096) |
p.(Pro482Leu) single Hetero | 1280.8 | (592.8–1968.8) | 1560.65 | (278.3–2843) | 5807.4 | (3038.4–8576.3) | 2567 | (96.3–5037.6) |
None p.(Pro482Leu) | 1483.7 | (186.9–4094.2) | 1822.9 | (845.4–5497.2) | 8594.5 | (2411.5–16476.1) | 1729.4 | (323.4–9512.9) |
