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Plasma amino acid levels in a cohort of patients in Turkey with classical phenylketonuria

Kazanasmaz Halil
Kazanasmaz Halil
 et 
Karaca Meryem
Karaca Meryem
   | 04 août 2020
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Article Category: Original article
Publié en ligne: 04 août 2020
Pages: 59 - 65
DOI: https://doi.org/10.1515/abm-2020-0009
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© 2020 Kazanasmaz Halil et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Mean serum levels of amino acids in phenyketonuric patients and controls

Plasma amino acid (μmol/L)Diet incompatible group (n = 56)Diet compatible group (n = 44)Control group (n = 50)P
Taurine72.46 ± 26.4973.54 ± 30.1479.69 ± 24.370.34
Tryptophan52.11 ± 23.153.67 ± 19.6348.64 ± 14.290.43
Phenylalanine845.87 ± 380.03162.68 ± 105.5157.67 ± 16.76<0.001***
Tyrosine53.7 ± 40.1254.33 ± 24.7269.09 ± 26.96<0.001***
Leucine106.04 ± 55.1194.27 ± 34.82104.43 ± 33.260.35
Methionine25.26 ± 10.6925.66 ± 7.6828.13 ± 9.870.26
Isoleucine49.97 ± 24.441.98 ± 14.9246.38 ± 17.950.14
Asparagine39.3 ± 16.8956.33 ± 21.359.79 ± 20.64<0.001***
Proline213.87 ± 128.52242.80 ± 103.59246.58 ± 126.680.31
Glutamine481.21 ± 126.66511.62 ± 124.11467.61 ± 120.820.22
GABA0.96 ± 1.070.39 ± 0.70.32 ± 0.57<0.001***
Citrulline32.93 ± 10.929.35 ± 8.731.99 ± 14.950.31
Glutamic acid39.01 ± 22.9480.47 ± 31.9298.48 ± 42.54<0.001***
Homocystin0.14 (0–1.85)0.23 (0–0.99)0.18 (0–1.96)0.2
Cystathionine0.24 (0–0.85)0.3 (0–1.02)0.25 (0–1.36)0.67
Cystine30.46 ± 13.1331.77 ± 11.8430.08 ± 9.860.75
Arginine68.69 ± 25.7572.84 ± 30.4177.69 ± 27.130.25
Hydroxylysine1.23 (0–32.58)1.18 (0–19.97)1.25 (0–11.3)0.13
Ornithine69.99 ± 22.9272.87 ± 31.5879.32 ± 26.540.13
Lysine138.69 ± 63.3127.94 ± 50.06121.52 ± 37.650.65
Histidine58.14 ± 34.4453.05 ± 21.5250.82 ± 25.910.17
3-methylhistidine1.86 (0.36–16.8)1.71 (0.16–4.39)1.98 (0.30–5.95)0.34
1-methylhistidine1.35 (0.23–5.99)1.1 (0.48–7.47)1.04 (0.42–9.74)0.72
Valine190.56 ± 91.52169.54 ± 62.43171 ± 55.760.26
Threonine109.75 ± 56.74117.71 ± 38.93114.67 ± 45.540.70
Serine132.62 ± 40.3140.07 ± 42.70144.5 ± 31.990.30
Alanine321.10 ± 129.26372.5 ± 136.02345.72 ± 145.270.17
Aspartic acid11.91 ± 7.1912.38 ± 6.9813.1 ± 10.260.75
Glycine305.1 ± 105.19202.82 ± 73.99174.73 ± 102.28<0.001***
Hydroxyproline9.50 ± 3.359.94 ± 3.959.98 ± 2.350.7

Sociodemographic characteristics of the patients

Diet incompatible group (n = 56)Diet compatible group (n = 44)Control group (n = 50)P
Sex (male/female)30/2627/1727/230.69†
Age (mean ± SD) (min–max) years6.57 ± 3.99 (0–14)6.75 ± 4.62 (0–16)6.36 ± 4.58 (0–16)0.15‡
Parental consanguinity
Yes/no n (%)49 (87.5)/7 (12.5)33 (75)/11 (25)11 (22)/39 (78)<0.001†
Refugee status
Yes/no n (%)16 (29)/40 (71)4 (9)/40 (91)5 (10)/45 (90)0.01†
Lenght percentile (n)0.96§
3–10 p855
10–25 p10813
25–50 p141416
50–75 p955
75–90 p666
90–97 p555
Weight percentile (n)0.82§
3–10 p655
10–25 p10813
25–50 p121417
50–75 p1275
75–90 p955
90–97 p755

Correlation between plasma levels of phenylalanine and other amino acids

Correlated factorsrP
Phenylalanine–GABA0.462<0.001
Phenylalanine–glycine0.511<0.001
Phenylalanine–asparagine−0.412<0.001
Phenylalanine–glutamic acid−0.475<0.001

Post hoc analysis of blood plasma amino acid levels with significant differences

Amino acidDIC–DCDIC–ControlDC–Control
Phenylalanine<0.001<0.001<0.001
Tyrosine>0.99<0.0010.004
GABA0.005<0.0010.92
Glycine<0.001<0.0010.47
Asparagine<0.001<0.0010.81
Glutamic acid<0.001<0.0010.06
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