Suppl. Table 2. Age and Mode of Diagnosis

Suppl. Table 2. Age and mode of diagnosis

Disease / Patients
n / Gender
m/f / Chronological age at last visit
Mean; median [n]
(Q1;Q3)
[min;max] in years / Age at diagnosis(all)
Mean; median [n]
(Q1;Q3)
[min;max] in days / Age at diagnosis (NBS)
Mean; median [n]
(Q1;Q3)
[min;max] in days / Age at diagnosis (Selective)
Mean; median [n]
(Q1;Q3)
[min;max] in days / Age at diagnosis (HRF)
Mean; median [n]
(Q1;Q3)
[min;max] in days
EO / LO / Total / HRF neo
NAGS-D / 9 / 3/6 / 10.1; 8.7 [9]
(2.9;16.2)
[0.8;18.8] / 562; 8 [7]
(2;210)
[2;3650] / n.r. / 18; 5 [4]
(2;47)
[2;60] / 1930; 1930 [2]
(210;---)
[210;3650] / n.r. / n.r.
CPS1-D / 21 / 14/7 / 10.5; 9.9 [21]
(6.4;13.5)
[0.1;26] / 747; 90 [21]
(4;863)
[1;6935] / 14; 14 [1]
(14;14)
[14;14] / 213; 4 [12]
(2;472)
[0;1095] / 1860; 1260 [7]
(119;2160)
[28;6935] / 90; 90 [1]
(90;90)
[90;90] / n.r.
OTC-D (m) / 109 / 109/0 / 13.7; 10.3 [109]
(3.6; 17.9)
[0.1;64.3] / 2175; 435 [106]
(10;2287)
[0;22995] / 7; 7 [1]
(7;7)
[7;7] / 6; 4 [22]
(3;8)
[2;21] / 1754; 815 [48]
(427;2555)
[4;11680] / 5439; 2190 [22]
(14;9581)
[1;22995] / 9; 9 [5]
(1;18)
[1;21]
OTC-D (f) / 146 / 0/146 / 22.1; 18.3 [145]
(8.9;32)
[0.1.6;77] / 4727; 1095 [140]
(510;9855)
[1;25550] / 1; 1 [1]
(1;1)
[1;1] / 66; 11 [4]
(4;183)
[3;240] / 2163; 840 [72]
(510;2100)
[4;25550] / 10226; 10950 [47]
(7665;13140)
[2;22995] / 9; 3 [3]
(2;---)
[2;22]
ASS-D / 87 / 49/38 / 8.5; 6.3 [87]
(3;12.7)
[0.1;34.8] / 199; 5 [83]
(3;30)
[0;7300] / 10; 11 [4]
(8;12)
[8;12] / 17; 5 [45]
(3;8)
[2;270] / 697; 270 [18]
(59;570)
[4;7300] / 2; 2 [6]
(1;3)
[0;3] / 1; 1 [4]
(0;3)
[0;3]
ASL-D / 61 / 39/22 / 10.1; 9 [61]
(4.5;13.2)
[0.1;39.4] / 390; 12 [56]
(4;210)
[1;4170] / 12; 12 [9]
(5;16)
[3;30] / 23; 4 [21]
(3;9)
[2;360] / 1109; 876 [17]
(195;1935)
[15;4170] / 554; 12 [4]
(2;1648)
[1;2190] / n.r.
ARG1-D / 12 / 5/7 / 11.8; 7.9 [12]
(3.1;21.3)
[1.1;30.1] / 961; 156 [12]
(25;1868)
[5;5110] / 17; 17 [4]
(7;28)
[5;30] / 270; 270 [1]
(270;270)
[270;270] / 1859; 1545 [6]
(282;3194)
[35;5110] / 42; 42 [1]
(42;42)
[42;42] / n.r.
HHH syndr. / 11 / 10/1 / 18.8; 12 [11]
(8.1;31.4)
[3.5;48.3] / 1742; 570 [10]
(74;1680)
[6;9855] / 6; 6 [1]
(6;6)
[6;6] / n.r. / 2471; 690 [7]
(510;4380)
[450;9855] / 57; 57 [2]
(25;---)
[25;90] / 25; 25 [1]
(25;25)
[25;25]
Total / 456 / 229/227 / 14.8; 11 [455]
(4.9;19.2)
[0.1;77] / 2251; 360 [435]
(7;1825)
[0;25550] / 12; 12 [21]
(6;14)
[1;30] / 42; 4 [109]
(3;9)
[0;1095] / 1789; 730 [177]
(365;2160)
[4;25550] / 7262; 7665 [83]
(42;12775)
[0;22995] / 8; 3 [13]
(1;18)
[0;25]

Data are shown as mean; median [n] (Q1;Q3) [min;max]; ---, Quartile cannot be calculated due to small group size or distribution; D, deficiency; EO, early onset; f, female; HRF, high-risk family screening, i.e. families with a previously identified index patients; HRF-neo, HRF in asymptomatic newborns; LO, late onset; m, male; n.r., not reported; NBS, newborn screening; Selective, selective diagnostic work-up started after the onset of first symptoms; syndr., syndrome.