Table 4 Lactate levels, respiratory chain enzyme activities, presence of muscle pathology and genetic findings in 130 patients with Leigh syndrome
From: A multicenter study on Leigh syndrome: disease course and predictors of survival
ID | Age of onset | B-lactate | CSF-lactate | Complex deficiency | Muscle pathology | Genetic etiology | ID | Age of onset | B-lactate | CSF-lactate | Complex deficiency | Muscle pathology | Genetic etiology |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 3 m | 4.0 | 4.7 | CI | - | MT -ND1 | 66 | 4 y 11 m | 1.9 | NA | CI | + | C20orf7 |
2 | 2 y 6 m | 3.0 | 3.9 | CI | + | MT -ND1 | 67 | 4 y 1 m | 4.6 | NA | CI | + | C20orf7 |
3 | IU | 2.6 | 2.5 | CI | +§ | MT-ND3 | 68 | 1 y | NA | NA | CIV | - | C12orf65 |
4 | 4 m | 8.0 | 6.4 | CI | - | MT-ND3 | 69 | Perinatal | 10.2 | NA | CI, CII | + | NDUFA9 |
5 | 6 y | 1.5 | 2.5 | - | - | MT -ND3 | 70 | 2 m | 4.9 | 2.4 | CI | + | NDUFA12 |
6 | 1 y | 7.7 | NA | CI, CIV | - | MT -ND3-4 | 71 | 3 m | 5.7 | NA | CI, CIII | - | NDUFAF2 |
7 | 11 m | 10.4 | 2.2 | CI, CV | + | MT -ND5 | 72 | 4 m | NA | NA | CI | - | NDUFAF2 |
8 | Perinatal | 22.9 | NA | CI, CIII, CIV | + | MT-ND5 | 73 | 6 m | 4.1 | NA | CI | + | NDUFV2 |
9 | 8 m | 1.6 | 3.7 | CI | - | MT -ND5 | 74 | 5 m | 15.0 | NA | CI | - | NDUFV2 |
10 | 1 y 4 m | 5.0 | 3.2 | CI | + | MT-ND6 | 75 | 3 y 3 m | 1.6 | NA | CI, CIII | + | NDUFS7 |
11 | 1 y 9 m | 3.2 | 4.6 | - | + | MT-ATP6 | 76 | 3 m | 10.2 | 4.7 | CI | - | NDFUS4 |
12 | 11 m | 2.1 | NA | NA | NA | MT-ATP6 | 77 | 9 m | 3.6 | 2.0 | CIII | - | BCS1L |
13 | 5 m | 4.4 | NA | NA | NA | MT-ATP6 | 78 | 7 m | 4.2 | 4.0 | CI | + | Unknown |
14 | Perinatal | 8.5 | 5.9 | CV | + | MT-ATP6 | 79 | 7 m | 1.5 | 1.5 | CII | - | Unknown |
15 | 6 y 7 m | 1.5 | 2.4 | CV | + | MT-ATP6 | 80 | 6 m | 7.0 | 3.2 | CI | + | Unknown |
16 | 1 y 2 m | 2.1 | 2.7 | CI-IV | - | MT-ATP6 | 81 | 2 y | 1.0 | 1.9 | - | - | Unknown |
17 | 4 m | 4.7 | 5.2 | CI-IV | + | MT-ATP6 | 82 | 1 y 3 m | 4.4 | NA | - | + | Unknown |
18 | 2 y 3 m | 1.5 | 2.7 | - | +§ | MT-ATP6 | 83 | Perinatal | 2.8 | 2.0 | CIV | + | Unknown |
19 | 6 m | 3.1 | 3.3 | - | - | MT-ATP6 | 84 | 5 y 1 m | 1.1 | 6.1 | NA | NA | Unknown |
20 | 4 m | 2.4 | 3.3 | - | - | MT-ATP6 | 85 | 1 y 5 m | 2.7 | 2.3 | - | + | Unknown |
21 | 5 m | 5.4 | 5.7 | CI-IV | - | MT-ATP6 | 86 | 1 y 4 m | 1.2 | NA | - | + | Unknown |
22 | 6 m | 6.2 | 6.2 | CI, CIII, CIV, CV | - | MT-ATP6 | 87 | Perinatal | 7.5 | 12.9 | CI, CIII | + | Unknown |
23 | 3 m | 5.5 | 5.8 | CV | - | MT-ATP6 | 88 | 1 y 2 m | 5.5 | 3.0 | CI, CIV | + | Unknown |
24 | 3 m | 6.4 | 8.1 | - | + | MT-ATP6 | 89 | 7 m | 4.4 | 5.9 | CI, CII | + | Unknown |
25 | 19 y | 1.2 | NA | NA | NA | MT-ATP6 | 90 | 2 m | 5.6 | 2.1 | CI-III | + | Unknown |
26 | 1 y 6 m | 0.8 | 2.1 | CV | + | MT-ATP6 | 91 | Perinatal | 17.0 | NA | - | - | Unknown |
27 | 8 m | 8.9 | 2.8 | CI, CIV | + | MT-TW | 92 | Perinatal | 6.7 | 3.7 | CI | - | Unknown |
28 | 2 y | 14.8 | 4.0 | CI, CIV | + | MT-TL1;MT-TE | 93 | 8 m | NA | NA | CIV | NA | Unknown |
29 | 1 y 4 m | 3.4 | 4.0 | CIV | + | SURF1 | 94 | 8 y 1 m | NA | NA | CI | - | Unknown |
30 | Perinatal | 5.6 | 6.0 | CIV | + | SURF1 | 95 | 18 y 8 m | 2.4 | 3.1 | - | - | Unknown |
31 | 1 y | 3.5 | 3.3 | CIV | + | SURF1 | 96 | 1 y 1 m | NA | NA | - | - | Unknown |
32 | 5 m | 7.8 | 6.0 | CIV | + | SURF1 | 97 | 3 m | 3.3 | NA | CIV | + | Unknown |
33 | 1 y | 2.6 | NA | CIV | NA | SURF1 | 98 | 7 m | 5.7 | 3.9 | CI-IV | + | Unknown |
34 | 2 m | NA | NA | CIV | - | SURF1 | 99 | 5 y 9 m | 2.5 | 3.5 | CI | + | Unknown |
35 | 8 m | NA | NA | CIV | - | SURF1 | 100 | 1 y | 12.4 | 1.3 | - | - | Unknown |
36 | 5 m | 3.3 | 3.6 | CIV | + | SURF1 | 101 | Perinatal | 8.4 | 6.3 | CI, CIV | + | Unknown |
37 | 1 m | 3.0 | 3.2 | NA | NA | SLC19A3 | 102 | 8 m | 0.8 | 1.0 | - | - | Unknown |
38 | 1 m | NA | NA | NA | NA | SLC19A3 | 103 | 6 y 5 m | 3.1 | 1.8 | CI | NA | Unknown |
39 | Perinatal | 2.1 | NA | NA | NA | SLC19A3 | 104 | IU | 11.1 | NA | NA | NA | NA |
40 | 6 m | 3.1 | NA | - | + | SLC19A3 | 105 | 4 m | 4.4 | 3.7 | - | - | Unknown |
41 | 1 m | 4.4 | NA | - | - | SLC19A3 | 106 | 2 y | 2.9 | 17.0 | CI, CV | + | Unknown |
42 | 1 m | 3.4 | 2.1 | CIV | NA | SLC19A3 | 107 | Perinatal | 4.8 | 5.5 | CI | - | NA |
43 | 1 m | 3.8 | NA | NA | NA | SLC19A3 | 108 | 6 m | 1.6 | 2.7 | NA | NA | NA |
44 | 2 y 7 m | 3.3 | 1.2 | - | - | SLC19A3 | 109 | 3 y | 2.8 | 1.7 | CI-IV | + | Unknown |
45 | 3 m | 2.0 | 1.7 | - | - | SLC19A3 | 110 | 6 m | 4.7 | 3.1 | CI-IV | +§ | Unknown |
46 | 5 m | 2.1 | NA | - | + | SUCLA2 | 111 | 7 m | 2.1 | 4.1 | NA | NA | NA |
47 | 1 m | 3.0 | 3.3 | NA | NA | SUCLA2 | 112 | 7 m | 2.3 | 4.1 | CI-IV | + | Unknown |
48 | 3 m | 5.9 | 2.9 | NA | NA | SUCLA2 | 113 | Perinatal | 7.9 | 2.8 | CI, CIV | + | Unknown |
49 | 5 m | 1.4 | NA | NA | NA | SUCLA2 | 114 | 7 y | 2.4 | 1.4 | - | - | Unknown |
50 | 2 m | NA | 6.3 | NA | NA | SUCLA2 | 115 | 1 m | 0.8 | 4.4 | - | - | Unknown |
51 | 3 m | NA | NA | NA | NA | SUCLA2 | 116 | 3 y 8 m | 5.7 | 5.0 | - | + | Unknown |
52 | Perinatal | 4.9 | NA | CI, CIII, CIV | NA | SUCLA2 | 117 | 4 y | 2.1 | 1.8 | - | - | Unknown |
53 | Perinatal | 5.6 | 3.1 | CI, CIV | + | SUCLA2 | 118 | 7 y | 2.3 | 1.3 | CI | + | Unknown |
54 | IU | 4.3 | NA | CIV | - | SUCLA2 | 119 | 11 m | 2.6 | NA | - | - | Unknown |
55 | 5 m | 4.5 | 2.8 | CI, CIV | - | SUCLA2 | 120 | 4 m | 3.9 | 1.2 | - | + | Unknown |
56 | 7 m | 5.0 | 2.1 | CI, CIV | + | SUCLG1 | 121 | 1 y 8 m | 4.2 | 3.1 | CI | + | Unknown |
57 | 3 m | 5.1 | 4.7 | CI-IV | NA | SUCLG1 | 122 | 1 y 1 m | 4.3 | NA | - | - | Unknown |
58 | 4 y 7 m | 3.3 | 3.7 | - | - | PDHA1 | 123 | Perinatal | NA | NA | NA | NA | Unknown |
59 | 10 m | 5.0 | NA | - | - | PDHA1 | 124 | 10 y 5 m | 3.7 | NA | CI, CIII | + | Unknown |
60 | 1 y 2 m | 3.4 | NA | NA | NA | PDHA1 | 125 | 5 m | 1.3 | 2.8 | CI | + | NA |
61 | 8 m | 6.2 | 6.2 | CII | - | PDHA1 | 126 | 2 y 11 m | NA | NA | - | + | Unknown |
62 | 7 m | NA | NA | NA | NA | PDHA1 | 127 | 8 y 2 m | 4.2 | NA | CI | - | NA |
63 | 8 m | 5.6 | 3.0 | - | + | SERAC1 | 128 | 4 y 3 m | 1.5 | NA | CI, CIII | + | NA |
64 | Perinatal | 3.8 | 9.1 | CII, CIII | - | SERAC1 | 129 | 1 y 9 m | 3.9 | 1.5 | CI | - | Unknown |
65 | Perinatal | 2.6 | 3.0 | - | - | SERAC1 | 130 | 6 m | 8.3 | 5.4 | NA | NA | NA |