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Table 2 Patients with evidence of CNS abnormalities

From: Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

Patient Sex Age last report years MAT1A allele 1/allele 2 MAT activity % of WT Cause ascer- tain-ment Age < 5 m Met range Age ≥ 5 m Met mean ± SD MRI (age done) Other Citation
1 M 24.2 c.113G>A (p.Ser38Asp) 8* NBS 670–1237 1030 Abnormal (20.7) [14, 16, 27, 58]
c.255delCA (p.Tyr92X) 0/NA 670
4 F 32 c.827insG (p.Lys351X) NA NBS --- 600–1400 Abnormal (11) [26, 64]
c.827insG (p.Lys351X) Normal (12)
5 F 26.1 c.791C>T (p.Arg264Cys) 0.3/23 NBS 201–1740 909 ± 272 Normal (13) [27, 47, 58]
c.1006G>A (p.Gly336Arg) 201 IQ 84 (14)
Learning disability (14)
7 M 17.8 c.292G>A (splicing) NA NBS 1226–1664 1428 ± 320 Normal (0.75) [27, 58]
c.292G>A (splicing) 1226 Abnormal (4.2)
Abnormal (11)
8 F 13.6 c.1043delTG (p.His350X) NA Dystonia --- 1157 ± 445 Abnormal (9) [26, 58]
c.1043delTG (p.His350X)
9 M 8.7 c.595C>T (p.Arg199Cys) 11/NA NBS 966–1467 879 ± 140 Normal (6) [26, 58]
c.539insTG (p.Thr185X) IQ 65 (6)
13 F 6.2 c.595C>T (p.Arg199Cys) 11/11 NBS 635–738 485 ± 49 Abnormal (8) [26, 58]
c.595C>T (p.Arg199Cys) Slow at school (16)
20 F 10.8 c.205G>A (p.Gly69Ser) 109/NA NBS --- 1400 Abnormal (10) [42]
c.1188G>T (p.X396YfsX464) 1560
22 F 7.5 c.874C>T (p.Arg292Cys) 14/NA NBS --- 1005–1676 Abnormal (2.9) [38, 81]
c.1067G>T (p.Arg356Leu) 395 Normal (6.4)
IQ 60 (5.4)
29 M 14.2 c.125T>C (p.Leu42Pro) 10/10 NBS 121–1541 1437 ± 498 Abnormal (13) [34, 37, 44]
c.125T>C (p.Leu42Pro) 121 IQ 73 (13)
30e M 7.0 c.274T>C (p.Tyr92His) 104/11 NBS 740 830 ± 368 IQ 121 (3) [34, 36, 41]
c.1067G>C (p.Arg356Pro) Abnormal (3.8)
  Better (5.5)
  Normal (7)
31e M 3 c.274T>C (p.Tyr92His) 104/11 NBS 820–2250 900–1140 Abnormal (0.8) [34, 41]
c.1067G>C (p.Arg356Pro) Abnormal (3)
32 M 9.4 c.433G>A (p.Glu145Lys) NA/14 NBS 1740–1870 740–1150 Abnormal (5) [34, 43]
c.874C>T (p.Arg292Cys) Abnormal (9.4)
  IQ 108 (9.4)
34 M 0.63 c.1068G>A (p.Arg356Trp) 4/4 NA 1846–3500 --- Severe retarded [34]
c.1068G>A (p.Arg356Trp)
35 F 2.8 c.292G>A (splicing) NA/11 NBS 1544–1685 1159 Abnormal (1.2) [26]
c.595C>T (p.Arg199Cys) Better (1.8)
36f F 1.3 c.539insTG (p.Thr185X) NA/20 NBS† 1400 1549 Normal (2.3) [34]
c.890C>A (p.Ala297Asp) 1400 Delayed development (2.3)
37f F 1.3 c.539insTG (p.Thr185X) NA/20 NBS† 1400 1400–1421 1614 Delayed development (2.3) [34]
c.890C>A (p.Ala297Asp)
38g F 13 c.896G>A (p.Arg299His) 13/13 Neuro-logical -- 1016 ± 549 Abnormal (12.8) [34]
c.896G>A (p.Arg299His) Delayed development (3)
39g M 9.8 c.896G>A (p.Arg299His) 13/13 Family --- 1000 ± 192 Abnormal (5.2) [34]
c.896G>A (p.Arg299His) Delayed in learning (10.5)
41 F 7.6 p.MAT1Adel NA NBS 192–1608 --- Abnormal (0.2)  
p.MAT1Adel 192 Normal (7.1)
42 M 1.9 c.607delATC (p.Ile203del) NA NBS 148–1490 1144 ± 143 Abnormal (1.2)  
c.607delATC (p.Ile203del) 148 Speech delay (1.5)
43 M 4.2 c.934C>T (p.Arg312Trp) NA NBS 460–1437 1120 Abnormal (3.8)  
c.934C>T (p.Arg312Trp) IQ 78 (3.3)
45 F 4.5 c.292G>C (p.Gly98Arg, splicing?) NA NBS 507–1012 901 ± 163 Abnormal (4)  
c.292G>C (p.Gly98Arg, splicing?) Better (4.5)
46 F 34 c.274T>C (p.Tyr92His) 8.3* NBS 402–1340 1326 ± 159 Abnormal (30) [15]
c.1067G>C (p.Arg356Pro) 104/11 IQ 99 (9)
47 F 17 c.1033insG (p.Lys351X) NA Unknown --- --- Abnormal (9)  
c.1033insG (p.Lys351X) Almost normal (17)
50h F 4.9 c.896G>A (p.Arg299His) NA Neuro-logical --- 878 ± 136 Abnormal (3.3) [34]
c.896G>A (p.Arg299His)
51h F 4.7 c.896G>A (p.Arg299His) NA Family --- 641 ± 74 Behavior deterioration (3.7) [34]
c.896G>A (p.Arg299His)
56 F 39 c.896G>A (p.Arg299His) NA Hi met baby --- 1233 ± 513 Neurological abnormality  
c.896G>A (p.Arg299His)
60 F 6.1 c.895C>T (p.Arg299Cys) 20/20 NBS 800–1067 1013 ± 283 Abnormal (1.4) [34, 40]
c.895C>T (p.Arg299Cys) Mild delay (5.6)
61 F 1.0 c.688G>A (p.Val230Met) NA /11 NBS 205–328 84 ± 34 Abnormal (4.5) [82]
c.1067G>C (p.Arg356Pro) Neurologic normal (5.5)
62 M 4.3 c.169G>A (p.Glu57Lys, splicing?) NA NBS 461 812 ± 309 Developmental delay (2.3)  
  MRI normal (2.3)
  Development normal (4.3)
63 M 2.9 c.169-2A>c.734_735delAG (p.Gln245Profs*20)G NA/0.3 NBS 938–1271 905 ± 99 Abnormal (0.8)  
c.791C>T (p.Arg264Cys) Worsen (1.5)
  1. Patients are assigned the same identifiers as were used when they were first described in the following papers: patient 1 [14, 16]; patients 5, 7, 8, 9 and 13 [58]; patient 20: 14 [42]; patient 22 [38]; patient 29: patient 2 [44]; patient 30 [36]; patient 31 [41]; patient 32 [43]; patient 46: case 2 [15], and patient 61 [82]
  2. *Activity based on assay of hepatic extract; others based on activity of mutant recombinant forms expressed in E coli [34]
  3. a Sibs are designated by the same superscript
  4. Cont. indicates that methionine restriction or AdoMet supplementation was continuing at last report
  5. NBS: Newborn screening
  6. NA: not available
  7. Met: methionine concentration in umol/L