Table 1A Plasma amino acid and PRODH genetic analysis in our patient and literature review. A. Analysis of plasma amino acids.
From: Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH
Amino acid | Reference (μmol/L) | Age: 8 years | Age: 10 years 2 months |
Hydroxyproline | ≤21.6 | 11.3 | 28.0 |
Threonine | 66.5–188.9 | 81.8 | 101.2 |
Serine | 72.4–164.5 | 106.9 | 122.3 |
Asparagine | 44.7–96.8 | 43.5 | 60.4 |
Glutamic acid | 12.6–62.5 | 28.0 | 18.3 |
Glutamine | 422.1–703.8 | 494.6 | 573.0 |
Proline | 77.8–272.7 | 530.2 | 624.5 |
Glycine | 151.0–351.0 | 203.4 | 184.9 |
Alanine | 208.7–522.7 | 292.7 | 390.3 |
Citrulline | 17.1–42.6 | 29.2 | 21.2 |
Valine | 147.8–307.0 | 130.5 | 218.2 |
Cystine | 13.7–28.3 | 9.1 | 11.9 |
Methionine | 18.9–40.5 | 16.0 | 28.6 |
Isoleucine | 43.0–112.8 | 34.9 | 65.5 |
Leucine | 76.6–171.3 | 67.7 | 128.2 |
Tyrosine | 40.4–90.3 | 57.9 | 91.6 |
Phenylalanine | 42.6–75.7 | 60.0 | 90.6 |
Histidine | 59.0–92.0 | 68.0 | 78.4 |
Tryptophan | 37.0–74.9 | 59.1 | 71.1 |
Ornithine | 31.3–104.7 | 33.1 | 53.5 |
Lysine | 108.7–242.2 | 94.2 | 149.6 |
Arginine | 53.6–133.6 | 61.7 | 101.4 |
Total AA | 2068.2–3510.3 | 2587.9 | 3248.7 |
NEAA | 1381.6–2379.4 | 1966.7 | 2317.3 |
EAA | 660.0–1222.3 | 612.2 | 931.4 |
BCAA | 265.8–579.1 | 233.1 | 411,9 |
EAA/NEAA | 0.40–0.63 | 0.31 | 0.4 |
BCAA/Total AA | 0.11–0.18 | 0.09 | 0.13 |
Fisher ratio | 2.43–4.40 | 1.98 | 2.26 |
