souckova 04.01.2025

Database of patients

Patient	Family	Country	Mutations in cDNA	Mutations in protein	Phenotype	SAdo [umol/l] in CSF ***	SAICAr [umol/l] in CSF	SAdo/ SAICAr in CSF	Ref.
1	1	Australia	-49T>C		severe	4.9#	6.9#	0.7#	[21]
			953C>T	P318L
2	2	Italy	-49T>C		severe	158	167	0.9	[26]
			1277G>A	R426H
3	3	Norway	-49T>C		severe				[21]
			1339T>C	S447P
4	4	Germany	421C>T	R141W	neonatal	470##	320##	1.5##	[16]
			618C>A	206-218del
5	5	France	1A>C	M1L	severe	367	376	1.0	[8]
			1120C>T	R374W
6	6	United States	1A>G	M1V	mild	87*	58*	1.5*	[31]
			1342T>C	S448P
7	7	Netherlands	5C>T	A2V	neonatal	1-2##	1-2##	1.0##	[34]
				S395R
8	8	United Kingdom	7G>C	A3P	neonatal	477	921	0.5	[22]
			578C>T	R190X
9	9	Czech Republic	8C>T	A3V	severe	126	147	0.9	[15]
			1009C>T	R337X
10	10	Poland	8C>T	A3V	severe	338*	323*	1.0*	[33]
				lack of mRNA
11	11	Poland	69C>G	S23R	severe	311	374	0.8	[14]
			1277G>A	R426H
12	12	Germany	76A>T	M26L	severe	370*	400*	0.9*	[16]
			1277G>A	R426H
13	13	Belgium	214A>G	I72V	severe	n.d.	n.d.		[20]
			736A>G	K246E
14	14	Australia	240A>C	E80D	mild	1.89#	0.87#	2.4#	[30]
			261T>G	D87E
15	15	Italy	298C>G	P100A	severe	75*	60*	1.3*	[36]
			1264G>T	D422Y
16	16	Czech Republic	340T>C	Y114H	mild	283	127	2.2	[15]
			569G>A	R190Q
17	16	Czech Republic	340T>C	Y114H	mild	260	125	2.1	[15]
			569G>A	R190Q
18	17	Poland	340T>C	Y114H	neonatal	n.d.	n.d.		[14]
			725C>T	T242I
19	17	Poland	340T>C	Y114H	severe	562	599	0.9	[14]
			725C>T	T242I
20	18	Czech Republic	340T>C	Y114H	neonatal	684	1100	0.6	[25]
			1128G>C	E376D
21	19	Czech Republic	340T>C	Y114H	severe	649	953	0.7	[31]
			1187G>A	R396H
22	20	Germany	340T>C	Y114H	neonatal			1.1*	[25]
			1277G>A	R426H
23	20	Germany	340T>C	Y114H	neonatal	n.d.	n.d.		[25]
			1277G>A	R426H
24	20	Germany	340T>C	Y114H	neonatal	n.d.	n.d.		[25]
			1277G>A	R426H
25	21	Czech Republic	340T>C	Y114H	neonatal	169	330	0.5	[25]
			1277G>A	R426H
26	22	Czech Republic	340T>C	Y114H	neonatal			1.1*	[33]
			1277G>A	R426H
27	23	Malaysia	445C>G	R194G	severe	380*	370*	1.0*	[10]
			774_778insG	A260GfsX24
28	24	Belgium	569G>A	R190Q	moderate	379	214	1.8	[11]
			736A>G	K246E
29	25	Czech Republic	580C>T	R194C	severe	269	281	1.0	[15]
			802G>A	D268N
30	26	Germany	580C>T	R194C	neonatal	n.d.	n.d.		[25]
			1186C>T	R396C
31	27	Poland	643G>C	D215H	severe	290*	215*	1.3*	[14]
			1052T>C	I351T
32	28	Morocco	674T>C	M225T	severe	101*	63*	1.6*	[6]
			674T>C	M225T
33	28	Morocco	674T>C	M225T	severe	79*	49*	1.6*	[6]
			674T>C	M225T
34	29	Poland	802G>C	D268H	mild	1816*	896*	2.0*	[14]
			1277G>A	R426H
35	30	United States	802G>A	D268N	severe	n.d.	n.d.		[31]
			1400C>G	P467R
36	31	Netherlands		N297S	mild to severe	370	210	1.8	[7]
			907C>T	R303C
37	32	Netherlands		N297S	mild	1130	390	2.9	[7]
			907C>T	R303C
38	33	Netherlands	907C>T	R303C	mild			4.0	[12]
			907C>T	R303C
39	34		907C>T	R303C	mild			3.0	[28]
			907C>T	R303C
40	35	Spain	931C>G	L311V	severe	273	180	1.5	[2]
			1187G>A	R396H
41	36	Spain	1090G>A	V364M	severe	5.0**	2.8**	1.8**	[2]
			1355G>C	R452P
42	36	Spain	1090G>A	V364M	severe	359	228	1.6	[2]
			1355G>C	R452P
43	37	Spain	1107A>C	I369L	severe			1.9*	[29]
			1107A>C	I369L
44	38		1267C>G	L423V	moderate	n.d.	n.d.		[9]
			1277G>A	R426H
45	39	Germany	1277G>A	R426H	severe	n.d.	n.d.		[31]
			1277G>A	R426H
46	40	Belgium	1277G>A	R426H	severe			1.3	[12]
			1277G>A	R426H
47	41	Poland	1277G>A	R426H	moderate	198*	133*	1.5*	[14]
			1277G>A	R426H
48	42	Poland	1277G>A	R426H	moderate	210*	125*	1.7*	[14]
			1277G>A	R426H
49	43	Netherlands	1277G>A	R426H	severe	218	213	1.0	[9]
			1277G>A	R426H
50	44	Netherlands	1277G>A	R426H	severe				[9]
			1277G>A	R426H
51	45	Netherlands	1277G>A	R426H	severe				[9]
			1277G>A	R426H
52	46	Portugal	1277G>A	R426H	severe	271	173	1.6	[4]
			1277G>A	R426H
53	46	Portugal	1277G>A	R426H	severe	178	132	1.4	[4]
			1277G>A	R426H
54	47	Netherlands	1277G>A	R426H	severe			1.2	[28]
			1277G>A	R426H
55	48	Czech Republic	1277G>A	R426H	severe			1.2*	[15]
			1277G>A	R426H
56	49	Turkey	1277G>A	R426H	severe				[9]
			1277G>A	R426H
57	50	Portugal	1277G>A	R426H	severe	242	197	1.2	[4]
			1277G>A	R426H
58	51	Netherlands	1277G>A	R426H	severe			1.5	[28]
			1277G>A	R426H
59	52	Germany	1277G>A	R426H	severe	292	207	1.4	[7]
			1277G>A	R426H
60	53	United States	1277G>A	R426H	mild			2.6*	[15]
			1288G>A	D430N
61	54	Netherlands	1277G>A	R426H	moderate			2.5	[28]
			1349C>G	T450S
62	54	Netherlands	1277G>A	R426H	moderate				[9]
			1349C>G	T450S
63	55	Morocco	1312T>C	S438P	severe	162	111	1.5	[32]
			1312T>C	S438P
64	55	Morocco	1312T>C	S438P	severe	166	154	1.1	[32]
			1312T>C	S438P
65	56	Colombia	nd	nd	neonatal	160	164	1.0	[2]
			nd	nd
66	56	Colombia	nd	nd	neonatal	n.d.	n.d.		[2]
			nd	nd
67	57	United States	1277G>A	R426H	mild to severe	222	n.d.		[33]
			1277G>A	R426H
68	57	United States	nd	nd	mild to severe	430	n.d.		[33]
			nd	nd
69	58	United Kingdom	-49T>C		severe	0.4##	0.4##	1.0##	[17]
			1277G>A	R426H
70	59	United Kingdom	421C>T	R141W	severe	2.0##	1.3##	1.6##	[17]
			1304C>T	P435L
71	60	Germany	731C>T	T244I	moderate	440*	n.d.*		[33]
			1191+5G>C	splice
72	61	Dominican Republic	1107A>C	I369L	severe			1.9*	[27]
			1107A>C	I369L
73	62	Spain	1165A>G	M389V	mild			3.4*	[27]
			1165A>G	M389V
74	63	Spain	1165A>G	M389V	mild to severe			2.7*	[27]
			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				[23]
			1253G>C	G418A
77	65	France	340T>C	Y114H	mild	322*	241*	1.3*	[23]
			1253G>C	G418A
78	65	France	340T>C	Y114H	severe				[23]
			1253G>C	G418A
79	66	Australia	-49T>C		severe	421*	324*	1.3*	[35]
			889_891dupAAT
80	67	Poland	1277G>A	R426H	mild	332*	161*		[13]
			802G>C	D268H
81	68		736 A>G	K246E	severe	120	117	1.0	[37]
			nd	nd
82	69		IVS12+1/G>C	splice site exon 12	severe	305	436	0.7	[37]
			802G>A	D268N
83	70		736A>G	K246Q	severe	282*			[3]
			947T>C	M316Y
84	71		1277G>A	R426H	severe				[3]
			1277G>A	R426H
85	72		1277G>A	R426H	severe	124*			[3]
			1277G>A	R426H
86	72		1277G>A	R426H	severe	97*			[3]
			1277G>A	R426H
87	73	China	71C>T	P24L	severe				[19]
			1387-1389delGAG	E463-
88	73	China	71C>T	P24L	severe				[19]
			1387-1389delGAG	E463-
89	74	China	71C>T	P24L	severe				[19]
			134G>A	W45*
90	74	China	71C>T	P24L	severe				[19]
			134G>A	W45*
91	75		926G>A	R309H	mild	116*	58*	2.0*	[18]
			1191+5G>C	splice site
92	76	Italy	340T>C	Y114H	severe	236*	38*	6.2*	[23]
			65C>T	A22V
93	77	Germany	76A>T	M26L	mild	22*	6*	3.6*	[18]
			1187G>A	R396H
94	77	Germany	76A>T	M26L	mild	20*	5*	3.7*	[18]
			1187G>A	R396H
95	78	Israel (Arab)	1027G>A	Q343K	moderate	122##			[24]
			1027G>A	Q343K
96	79	Turkey	1277G>A	R426H	moderate				[5]
			910T>G	C304G
97	80	Qatar	1343_1345delCTT	S448del	neonatal	208*	223*	0.9*	[23]
			502G>A	V168I
98	81		1277G>A	R426H	severe	457			[23]
			1277G>A	R426H
99	82		1277G>A	R426H	severe	856			[23]
			1277G>A	R426H
100	83		1277G>A	R426H	severe	674			[23]
			1277G>A	R426H
101	84			R149G	severe	positive			[23]
				W175C
102	85		421C>T	R141W	severe			1.4*	[23]
				P318L
103	86		1277G>A	R426H	severe	311	374	0.8	[23]
				S23R
104	87		1277G>A	R426H	moderate				[23]
			1277G>A	R426H
105	87		1277G>A	R426H					[23]
			1277G>A	R426H
106	88			E343K	mild	123*			[23]
				E343K
107	89		1277G>A	R426H	mild	469*			[23]
				D430D
108	90			T450S	mild	176*	73*	2.4*	[23]
				D332H
109	91		701+1G>G/A	intron 6	severe	positive MR spect	positive MR spect		[1]
			926G>G/A	intron 9
110	92		65C > T	A22V	severe	236*	38*		[39]
			340 T > C	Y114H		5.9**	4.5**
111	93	Germany	76A>T	M26L	very mild	22*	6.2*	3.6*	[40]
			1187G>A	R396H
112	94		76A>T	M26L	very mild	20*	5.4*	3.7*	[40]
			1187G>A	R396H
113	95		1027G > A	E343K	severe	122##	?		[41]
			1027G > A	E343K
114	96	Turkey	1277 G > A	R426H	severe				[42]
			910 T > G	C304G
115	97		154-3C>G	splicing mutation	moderate/severe				[43]
			71C>T	P24L
116	98	Great Britain	632T>A	L211H	severe	1399**	696**		[44]
			1277G>A	R426H

normal range of SAICAr: undetectable; normal range of SAdo: 0.6-7.4 mmol/mol creatinine (in urine) [38]

# umol/mg of creatinine (in urine)

## mmol/l (in urine)

* mmol/mol of creatinine (in urine)

** umol/l (in plasma)

*** CSF = cerebrospinal fluid

[1] Banerjee A, Bhatia V, Didwal G, Singh AK, Saini AG. ADSL Deficiency - The Lesser-Known Metabolic Epilepsy in Infancy. Indian J Pediatr. 2021 Mar;88(3):263-265. doi: 10.1007/s12098-020-03435-4. Epub 2020 Jul 18. PMID: 32681428.

[2] Castro M, Pérez-Cerdá C, Merinero B, García MJ, Bernar J, Gil Nagel A, Torres J, Bermúdez M, Garavito P, Marie S, Vincent F, Van den Berghe G, Ugarte M. Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. Neuropediatrics. 2002 Aug;33(4):186-9. doi: 10.1055/s-2002-34493. PMID: 12368987.

[3] Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 2016 Jul 27;8:61-6. doi: 10.1016/j.ymgmr.2016.07.007. PMID: 27504266; PMCID: PMC4969260.

[4] Edery P, Chabrier S, Ceballos-Picot I, Marie S, Vincent MF, Tardieu M. Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. Am J Med Genet A. 2003 Jul 15;120A(2):185-90. doi: 10.1002/ajmg.a.20176. PMID: 12833398.

[5] Cakmak Celik F, Ozlu MM, Ceylaner S. A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing. Clin Neurol Neurosurg. 2021 Mar;202:106506. doi: 10.1016/j.clineuro.2021.106506. Epub 2021 Jan 19. PMID: 33497949.

[6] Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S, Benoist JF, Vincent MF, Desguerre I, Bahi-Buisson N. Misleading behavioural phenotype with adenylosuccinate lyase deficiency. Eur J Hum Genet. 2009 Jan;17(1):133-6. doi: 10.1038/ejhg.2008.174. Epub 2008 Oct 1. PMID: 18830228; PMCID: PMC2985950.

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[9] http://www.icp.ucl.ac.be/adsldb

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[11] Jaeken J, Van den Bergh F, Vincent MF, Casaer P, Van den Berghe G. Adenylosuccinase deficiency: a newly recognized variant. J Inherit Metab Dis. 1992;15(3):416-8. doi: 10.1007/BF02435992. PMID: 1405483..

[12] Jaeken J, Wadman SK, Duran M, van Sprang FJ, Beemer FA, Holl RA, Theunissen PM, de Cock P, van den Bergh F, Vincent MF, et al. Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr. 1988 Nov;148(2):126-31. doi: 10.1007/BF00445919. PMID: 3234432.

[13] Jurecka A, Zikanova M, Jurkiewicz E, Tylki-Szymańska A. Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature. Neuropediatrics. 2014 Feb;45(1):50-5. doi: 10.1055/s-0033-1337335. Epub 2013 Mar 16. PMID: 23504561.

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[17] Lundy CT, Jungbluth H, Pohl KR, Siddiqui A, Marinaki AM, Mundy H, Champion MP. Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases. Pediatr Neurol. 2010 Nov;43(5):351-4. doi: 10.1016/j.pediatrneurol.2010.06.007. PMID: 20933180.

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[20] Marie S, Cuppens H, Heuterspreute M, Jaspers M, Tola EZ, Gu XX, Legius E, Vincent MF, Jaeken J, Cassiman JJ, Van den Berghe G. Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. Hum Mutat. 1999;13(3):197-202. doi: 10.1002/(SICI)1098-1004(1999)13:3<197::AID-HUMU3>3.0.CO;2-D. PMID: 10090474..

[21] Marie S, Race V, Nassogne MC, Vincent MF, Van den Berghe G. Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency. Am J Hum Genet. 2002 Jul;71(1):14-21. doi: 10.1086/341036. Epub 2002 May 9. PMID: 12016589; PMCID: PMC384970.

[22] Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD. Adenylosuccinate lyase deficiency--first British case. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3. doi: 10.1081/NCN-200027494. PMID: 15571235.

[23] Mastrogiorgio G, Macchiaiolo M, Buonuomo PS, Bellacchio E, Bordi M, Vecchio D, Brown KP, Watson NK, Contardi B, Cecconi F, Tartaglia M, Bartuli A. Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency. Orphanet J Rare Dis. 2021 Mar 1;16(1):112. doi: 10.1186/s13023-021-01731-6. PMID: 33648541; PMCID: PMC7919308.

[24] Andelman-Gur MM, Saitsu H, Matsumoto N, Spiegel R, Yosovich K, Lev D, Lerman-Sagie T, Blumkin L. Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency. Eur J Med Genet. 2020 Dec;63(12):104061. doi: 10.1016/j.ejmg.2020.104061. Epub 2020 Sep 3. PMID: 32890691.

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