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
  1. AA: amino acids, BCAA: branched-chain amino acids, EAA: essential amino acids, NEAA; non-essential amino acids.
  2. At the age of 8 years, he ate fish but had little pork and meat. At the age of 10 years and 2 months, he had consumed more meat and pork than before.