1st Faculty of Medicine Charles University 1st Faculty of Medicine Charles University ADSL deficiency and other DNPS disorders
zikanova 17.09.2026

Patient database

Patient Family Country Mutation in cDNA Mutation in protein Phenotype SAdo [umol/l] in CSF *** SAICAr [umol/l] in CSF SAdo/ SAICAr in CSF PMID
1 1 Australia -49T>C severe 4.9# 6.9# 0.7# 12016589
953C>T P318L
2 2 Italy -49T>C severe 158 167 0.9 11042421
1277G>A R426H
3 3 Norway -49T>C severe 12016589
1339T>C S447P
4 4 Germany 421C>T R141W neonatal 470## 320## 1.5## 10727185
618C>A 206-218del
5 5 France 1A>C M1L severe 367 376 1.0 12070256
1120C>T R374W
6 6 United States 1A>G M1V mild 87* 58* 1.5* 16839792
1342T>C S448P
7 7 Netherlands 5C>T A2V neonatal 1-2## 1-2## 1.0## 9553952
S395R
8 8 United Kingdom 7G>C A3P neonatal 477 921 0.5 15571235
578C>T R190*
9 9 Czech Republic 8C>T A3V severe 126 147 0.9 10888601
1009C>T R337*
10 10 Poland 8C>T A3V severe 338* 323* 1.0* unpublished
lack of mRNA
11 11 Poland 69C>G S23R severe 311 374 0.8 18524658
1277G>A R426H
12 12 Germany 76A>T M26L severe 370* 400* 0.9* 10727185
1277G>A R426H
13 13 Belgium 214A>G I72V severe n.d. n.d. 10090474
736A>G K246E
14 14 Australia 240A>C E80D mild 1.89# 0.87# 2.4# 15471876
261T>G D87E
15 15 Italy 298C>G P100A severe 75* 60* 1.3* 9545543
1264G>T D422Y
16 16 Czech Republic 340T>C Y114H mild 283 127 2.2 10888601
569G>A R190Q
17 16 Czech Republic 340T>C Y114H mild 260 125 2.1 10888601
569G>A R190Q
18 17 Poland 340T>C Y114H neonatal n.d. n.d. 18524658
725C>T T242I
19 17 Poland 340T>C Y114H severe 562 599 0.9 18524658
725C>T T242I
20 18 Czech Republic 340T>C Y114H neonatal 684 1100 0.6 17188615
1128G>C E376D
21 19 Czech Republic 340T>C Y114H severe 649 953 0.7 16839792
1187G>A R396H
22 20 Germany 340T>C Y114H neonatal 1.1* 17188615
1277G>A R426H
23 20 Germany 340T>C Y114H neonatal n.d. n.d. 17188615
1277G>A R426H
24 20 Germany 340T>C Y114H neonatal n.d. n.d. 17188615
1277G>A R426H
25 21 Czech Republic 340T>C Y114H neonatal 169 330 0.5 17188615
1277G>A R426H
26 22 Czech Republic 340T>C Y114H neonatal 1.1* unpublished
1277G>A R426H
27 23 Malaysia 445C>G R194G severe 380* 370* 1.0* 20177786
774_778insG A260GfsX24
28 24 Belgium 569G>A R190Q moderate 379 214 1.8 1405483
736A>G K246E
29 25 Czech Republic 580C>T R194C severe 269 281 1.0 10888601
802G>A D268N
30 26 Germany 580C>T R194C neonatal n.d. n.d. 17188615
1186C>T R396C
31 27 Poland 643G>C D215H severe 290* 215* 1.3* 18524658
1052T>C I351T
32 28 Morocco 674T>C M225T severe 101* 63* 1.6* 18830228
674T>C M225T
33 28 Morocco 674T>C M225T severe 79* 49* 1.6* 18830228
674T>C M225T
34 29 Poland 802G>C D268H mild 1816* 896* 2.0* 18524658
1277G>A R426H
35 30 United States 802G>A D268N severe n.d. n.d. 16839792
1400C>G P467R
36 31 Netherlands 890A>G N297S mild to severe 370 210 1.8 20175147
907C>T R303C
37 32 Netherlands 890A>G N297S mild 1130 390 2.9 20175147
907C>T R303C
38 33 Netherlands 907C>T R303C mild 4.0 3234432
907C>T R303C
39 34 907C>T R303C mild 3.0 10958654
907C>T R303C
40 35 Spain 931C>G L311V severe 273 180 1.5 12368987
1187G>A R396H
41 36 Spain 1090G>A V364M severe 5.0** 2.8** 1.8** 12368987
1355G>C R452P
42 36 Spain 1090G>A V364M severe 359 228 1.6 12368987
1355G>C R452P
43 37 Spain 1107A>C I369L severe 1.9* 20049533
1107A>C I369L
44 38 1267C>G L423V moderate n.d. n.d.

http://www.icp.ucl.ac.be/adsldb
1277G>A R426H
45 39 Germany 1277G>A R426H severe n.d. n.d. 16839792
1277G>A R426H
46 40 Belgium 1277G>A R426H severe 1.3 3234432
1277G>A R426H
47 41 Poland 1277G>A R426H moderate 198* 133* 1.5* 18524658
1277G>A R426H
48 42 Poland 1277G>A R426H moderate 210* 125* 1.7* 18524658
1277G>A R426H
49 43 Netherlands 1277G>A R426H severe 218 213 1.0 http://www.icp.ucl.ac.be/adsldb
1277G>A R426H
50 44 Netherlands 1277G>A R426H severe http://www.icp.ucl.ac.be/adsldb
1277G>A R426H
51 45 Netherlands 1277G>A R426H severe http://www.icp.ucl.ac.be/adsldb
1277G>A R426H
52 46 Portugal 1277G>A R426H severe 271 173 1.6 12833398
1277G>A R426H
53 46 Portugal 1277G>A R426H severe 178 132 1.4 12833398
1277G>A R426H
54 47 Netherlands 1277G>A R426H severe 1.2 10958654
1277G>A R426H
55 48 Czech Republic 1277G>A R426H severe 1.2* 10888601
1277G>A R426H
56 49 Turkey 1277G>A R426H severe http://www.icp.ucl.ac.be/adsldb
1277G>A R426H
57 50 Portugal 1277G>A R426H severe 242 197 1.2 12833398
1277G>A R426H
58 51 Netherlands 1277G>A R426H severe 1.5 10958654
1277G>A R426H
59 52 Germany 1277G>A R426H severe 292 207 1.4 20175147
1277G>A R426H
60 53 United States 1277G>A R426H mild 2.6* 10888601
1288G>A D430N
61 54 Netherlands 1277G>A R426H moderate 2.5 10958654
1349C>G T450S
62 54 Netherlands 1277G>A R426H moderate http://www.icp.ucl.ac.be/adsldb
1349C>G T450S
63 55 Morocco 1312T>C S438P severe 162 111 1.5 1302001
1312T>C S438P
64 55 Morocco 1312T>C S438P severe 166 154 1.1 1302001
1312T>C S438P
65 56 Colombia nd nd neonatal 160 164 1.0 12368987
nd nd
66 56 Colombia nd nd neonatal n.d. n.d. 12368987
nd nd
67 57 United States 1277G>A R426H mild to severe 222 n.d. unpublished
1277G>A R426H
68 57 United States nd nd mild to severe 430 n.d. unpublished
nd nd
69 58 United Kingdom -49T>C severe 0.4## 0.4## 1.0## 20933180
1277G>A R426H
70 59 United Kingdom 421C>T R141W severe 2.0## 1.3## 1.6## 20933180
1304C>T P435L
71 60 Germany 731C>T T244I moderate 440* n.d.* unpublished
1191+5G>C splice
72 61 Dominican Republic 1105A>C I369L severe 1.9* 21903433
1105A>C I369L
73 62 Spain 1165A>G M389V mild 3.4* 21903433
1165A>G M389V
74 63 Spain 1165A>G M389V mild to severe 2.7* 21903433
1165A>G M389V
75 64 Ireland 340T>C Y114H severe 0.3## 0.2## 1.7##
no RNA prob.splice
76 65 France 340T>C Y114H mild 33648541
1253G>C G418A
77 65 France 340T>C Y114H mild 322* 241* 1.3* 33648541
1253G>C G418A
78 65 France 340T>C Y114H severe 33648541
1253G>C G418A
79 66 Australia -49T>C severe 421* 324* 1.3* 23937257
889_891dupAAT N297dup
80 67 Poland 1277G>A R426H mild 332* 161* 23504561
802G>C D268H
81 68 736 A>G K246E severe 120 117 1.0 23055421
nd nd
82 69 IVS12+1/G>C splice site exon 12 severe 305 436 0.7 23055421
802G>A D268N
83 70 736A>G K246Q severe 282* 27504266
947T>C M316Y
84 71 1277G>A R426H severe 27504266
1277G>A R426H
85 72 1277G>A R426H severe 124* 27504266
1277G>A R426H
86 72 1277G>A R426H severe 97* 27504266
1277G>A R426H
87 73 China 71C>T P24L severe 28487569
1387-1389delGAG E463*
88 73 China 71C>T P24L severe 28487569
1387-1389delGAG E46*
89 74 China 71C>T P24L severe 28487569
134G>A W45*
90 74 China 71C>T P24L severe 28487569
134G>A W45*
91 75 926G>A R309H mild 116* 58* 2.0* 28768552
1191+5G>C splice site
92 76 Italy 340T>C Y114H severe 236* 38* 6.2* 33648541
65C>T A22V
93 77 Germany 76A>T M26L mild 22* 6* 3.6* 28768552
1187G>A R396H
94 77 Germany 76A>T M26L mild 20* 5* 3.7* 28768552
1187G>A R396H
95 78 Israel (Arab) 1027G>A Q343K moderate 122## 32890691
1027G>A Q343K
96 79 Turkey 1277G>A R426H moderate 33497949
910T>G C304G
97 80 Qatar 1343_1345delCTT S448del neonatal 208* 223* 0.9* 33648541
502G>A V168I
98 81 1277G>A R426H severe 457 33648541
1277G>A R426H
99 82 1277G>A R426H severe 856 33648541
1277G>A R426H
100 83 1277G>A R426H severe 674 33648541
1277G>A R426H
101 84 445C>G R149G severe positive 33648541
525G>T W175C
102 85 421C>T R141W severe 1.4* 33648541
953C>T P318L
103 86 1277G>A R426H severe 311 374 0.8 33648541
69C>G S23R
104 87 1277G>A R426H moderate 33648541
1277G>A R426H
105 87 1277G>A R426H 33648541
1277G>A R426H
106 88 1027G>A E343K mild 123* 33648541
1027G>A E343K
107 89 1277G>A R426H mild 469* 33648541
1288G>A D430N
108 90 1349C>G T450S mild 176* 73* 2.4* 33648541
994G>C D332H
109 91 701+1G>G/A intron 6 severe positive MR spect positive MR spect 32681428
926G>G/A intron 9
110 92 65C > T A22V severe 236.11* 37.59* AICAr 19.96* 31467849
340 T > C Y114H 5.92** 4.52** AICAr 1.88**
111 93 Germany 76A>T M26L very mild 22.3* 6.2* 3.6* 32405461
1187G>A R396H
112 93 76A>T M26L very mild 19.9* 5.4* 3.7* 32405461
1187G>A R396H
113 94 1027G > A Glu343Lys severe 121.9## ? 32890691
1027G > A Glu343Lys
114 95 Turkey 1277 G > A R426H severe 33497949
910 T > G C304G
115 96 154-3C>G splicing mutation moderate/severe normal? 36338215
71C>T P24L
116 97 Great Britain 632T>A L211H severe 1398.7** 696** 36271826
1277G>A R426H
117 98 USA 1277G>A R426H 149*
1277G>A R426H
118 98 USA 1277G>A R426H 171*
1277G>A R426H
119 99 Switzerland 1A>T M1F
307G>A A103T
120 100 Netherlands 1277G>A R426H 1.7(?)
1277G>A R426H
121 101 Brazilia 965G>A
1277G>A R426H
122 102 Italy 300C>G
1266G>T
123 103 USA 734G>A R245Q
1400C>G P467R
124 104 Turkey 1288G>A D430N 70.2* 57*
125 105 Dominican Republic 1105A>C I369L
126 106 USA 1342T>C S448P
807dupA R270TfsX14
127 107 Saudi Arabia 94G>T D32Y
128 108 USA 1342T>C S448P
550C>T Q184*
129 109 USA 1277G>A R426H
130 110 Poland 1277G>A R426H
1277G>A R426H
131 111 Netherlands 1277G>A R426H 341* 166*
1288G>A D430N
normal range SAICAr: undetectable; SAdo: 0.6-7.4 mmol/mol creatinine (in urine) [1]
# umol/mg of creatinine (in urine)
## mmol/l (in urine)
* mmol/mol of creatinine (in urine)
** umol/l (in plasma)
*** CSF = cerebrospinal fluid


number of views: 9783 author: souckova, last modification: zikanova, 17.09.2026