Correction to: J Inherit Metab Dis (2018)
10.1007/s10545-018-0227-7
Due to a typesetting error the wrong Table 2 was used. The correct Table 2 is shown here:
Table 2.
CSF biochemistry of POLG and PICU patient cohort
| Patient | Diagnosis | Age NT tested | CSF Protein (g/L) | CSF Lactate (mmol/L) | HVA (nmol/L) | 5-HIAA (nmol/L) | HVA/5-HIAA | 3-OMD (nmol/L)**** | 5-MTHF (nmol/L) | Neopterin (nmol/L) | BH4 (nmol/L) | BH2 (nmol/L) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D1 | POLG disease (Morten et al 2007) | 8m | No information | 2.4 (1.8-2.9) | 456 (176-851) | 180 (68-451) | 2.5 | ND | 187 (72-305) | 10 (7-65) | 40 (19-56) | 7.8 (0.4-13.9) |
| D2 | POLG disease | 10m | No information | 4.17 (0.8-2.9) c | 955 (176-851)c | 589 (68-451)c | 1.6 | ND | 142 (72-305) | 68 (7-65) | 9 (19-56) d | 15.2 (0.4-13.9)c |
| D3 | POLG disease (Allen et al 2014) | 11m | 0.52 (0.15-0.45)c | Normal | 651 (176-851) | 287 (68-451) | 2.3 | 134 (<300) | 170 (72-305) | 94 (7-65)c | 65 (19-56) c | 10.3 (0.4-13.9) |
| D4 | POLG disease | 11m | No information | High | 1486 (176-851)c | 751 (68-451)c | 2.0 | 38 (<300) | 85 (72-305) | 65 (7-65) | 27 (19-56) | 16.8 (0.4-13.9)c |
| D5 | POLG disease | 12m | 1.03 (0.15-0.45)c | 2.4 (0.8-1.9)c | 899 (154-867)c | 436 (89-367)c | 2.1 | ND | 127 (72-305) | 13 (7-65) | 45 (8-57) | 10.2 (0.4-13.9) |
| D6 | POLG disease | 13m | Normal | Normal | 1168 (154-867)c | 493 (89-367)c | 2.4 | 32 (<50) | 56 (72-305)d | 85 (7-65)c | 36 (8-57) | 12.5 (0.4-13.9) |
| D7 | POLG disease | 13m | No information | 2.3 (0.8-1.9)c | 765 (154-867) | 330 (89-367) | 2.3 | 32 (<50) | 204 (72-305) | 81 (7-65)c | 59 (8-57) | 13.3 (0.4-13.9) |
| D8 | POLG disease | 13m | No information | No information | 938 (154-867)c | 429 (89-367)c | 2.1 | 85 (<50)c | ND | ND | ND | ND |
| D9 | POLG disease | 13m | No information | No information | 250 (154-867) | 106 (89-367) | 2.4 | ND | 144 (72-305) | 20 (7-65) | 32 (8-57) | 6.5 (0.4-13.9) |
| D10 | POLG disease | 13m | 0.81 (0.15-0.45)c | 1.6 (0.8-1.9) | 902 (154-867)c | 320 (89-367) | 2.8 | ND | 76 (72-305) | 46 (7-65) | 21 (8-57) | 9.6 (0.4-13.9) |
| D11 | POLG disease | 14m | No information | High | 793 (154-867) | 440 (89-367)c | 1.8 | 129 (<50)c | 89 (72-305) | 188 (7-65)c | 41 (8-57) | 13.6 (0.4-13.9) |
| D12 | POLG disease | 18m | No information | No information | 757 (154-867) | 306 (89-367) | 2.5 | ND | 72 (72-305) | 196 (7-65)c | 54 (8-57) | 14.9 (0.4-13.9) |
| D13 | POLG disease | 22m | No information | No information | 1733 (154-867)c | 762 (89-367)c | 2.3 | 204 (<50)c | 16 (72-305)d | 791 (7-65)c | 7 (8-57) | 34.0 (0.4-13.9)c |
| D14 | POLG disease | 51m | No information | No information | 293 (154-867) | 86 (89-367) | 3.4 | 116(<50)c | 53 (52-178) | 41 (7-65) | 57 (8-57) | 8.1 (0.4-13.9) |
| D15 | POLG disease (McCoy et al 2011) | 43m | Normal | Normal | 625 (154-867) | 348 (89-367) | 1.8 | ND | 123 (52-178) | 32 (7-65) | 42 (8-57) | 14.2 (0.4-13.9) |
| P1 | Presumed infective encephalitis, UA | 0.5m | 0.55 (0.2-0.8) | 1.1 (0.8-1.9) | 543 (324-1098) | 431 (199-608) | 1.3 | No information | ND | 141 (7-65)c | 56 (27-105) | 12.2 (0.4-13.9) |
| P2 | Neonatal seizures, UA | 0.5m | 0.52 (0.2-0.8) | 1.2 (0.8-1.9) | 239 (324-1098)d | 213 (199-608) | 1.1 | No information | 141 (72-305) | 53 (7-65) | 68 (27-105) | 9.8 (0.4-13.9) |
| P3 | Ohtahara's syndrome, UA | 0.75m | 1.56 (0.2-0.8)c | 1.1 (0.8-1.9) | 549 (324-1098) | 338 (199-608) | 1.6 | No information | 106 (72-305) | 105 (7-65)c | 20 (27-105) | 10.1 (0.4-13.9) |
| P4 | Presumed infective encephalitis, UA | 1.5m | Blood stained | 1.7 (0.8-1.9) | 365 (324-1098) | 184 (199-608) | 2.0 | No information | 130 (72-305) | 188 (7-65)c | 27 (27-105) | 19.7 (0.4-13.9)c |
| P5 | Status epilepticus and regression, UA | 8m | 0.38 (0.15-0.45) | 1.3 (0.8-1.9) | 383 (176-851) | 171 (68-451) | 2.2 | No information | ND | 375 (7-65)c | 45 (19-56) | 39.1 (0.4-13.9)c |
| P6 | Recurrent status epilepticus, UA | 8m | Blood stained | 1.4 (0.8-1.9) | 1114 (176-851)c | 811 (68-451)c | 1.4 | No information | 295 (72-305) | Bld | Bld | Bld |
| P7 | Status epilepticus and dystonicus, UA | 43m | 0.18 (0.15-0.45) | ND | 577 (154-867) | 145 (89-367) | 4.0 | No information | ND | ND | ND | ND |
| P8 | Neonatal sepsis*, UA | 0.5m | Blood Stained | Insufficient | 3172 (324-1098)c | 595 (199-608) | 5.3 | No information | 68 (72-305) | Bld | Bld | Bld |
| P9 | Non-ketotic Hyperglycinaemia | 2m | 0.46 (0.15-0.45) | 1.4 (0.8-1.9) | 577 (324-1098) | 318 (199-608) | 1.8 | No information | 103 (72-305) | Bld | Bld | Bld |
| P10 | PNPO deficiency | 2m | 1.44 (0.15-0.45) c | 2.6 (0.8-1.9)c | 151 (324-1098)d | 122 (199-608)d | 1.2 | No information | N | 37 (7-65) | 53 (27-105) | 10.3 (0.4-13.9) |
| P11 | Glutaric aciduria type 1 | 29m | Insufficient | 3.5 (0.8-1.9)c | 425 (176-851) | 244 (89-367) | 1.7 | No information | ND | 40 (7-65) | 11 (8-57) | 0.4 (0.4-13.9) |
| P12 | VGKC antibody mediated encephalitis | 122m | 0.16 (0.15-0.45) | 1.1 (0.8-1.9) | 26 (71-565)d | 78 (58-220) | 0.33 | No information | 56 (46-160) | 16 (7-65) | 7 (9-39) | 3.3 (0.4-13.9) |
| P13 | PCH6, RARS2 mutations identified | 0.25m | 0.93 (0.4-1.2) | 1.5 (0.8-1.9) | 187 (324-1098)d | ND | ND | No information | 131 (72-305) | 22 (7-65) | 56 (27-105) | 8.9 (0.4-13.9) |
| P14 | Possible mitochondrial disorder, UA** | 0.25m | 1.54 | 2.5 (0.8-1.9)c | 549 (324-1098) | 145 (199-608)d | 3.8 | No information | ND | 275 (7-65)c | 81 (27-105) | 48.8 (0.4-13.9)c |
| P15 | FIRES;possible mitochondrial disorder, UA*** | 83m | ND | 3.1 (0.8-1.9)c | 377 (71-565) | 234 (58-220) | 1.6 | No information | 123 (72-172) | 440 (7-65)c | 15 (9-39) | 20.8 (0.4-13.9)c |
Neurotransmitter levels are reported according to age-related reference ranges (Hyland et al 1993; Aylett et al 2013) (in brackets) in patients with POLG disease (D1-D15) and in patients with non-POLG related status epilepticus (P1-P15). No definitive diagnosis was achieved for P1-P7, P14 and P15. A mitochondrial disorder was confirmed in P13 and suspected in P14 and P15. Abnormal results are depicted in bold. cvalues >10% above upper limit of the normal reference range. d>10% below the lower limit of the normal reference range. Reference ranges for protein and lactate measurements are provided by the analysing laboratory but caution in their interpretation is warranted, as studies have indicated that higher age-specific upper limits could also be within the normal range (Leen et al 2012). Abbreviations: 3-OMD= 3-O-methyldopa, 5-HIAA= 5-hydroxyindoleacetic acid, 5-MTHF= 5-methyltetrahydrofolate, BH2= dihydrobiopterin, BH4= tetrahydrobiopterin, Bld=bloodstained, CSF= cerebrospinal fluid, FIRES= fever-induced refractory epileptic encephalopathy in school-aged children, HVA= homovanillic acid, LP= lumbar puncture, m= months of life, MRI= magnetic resonance imaging, ND= not done, Neo= neopterin, NT= neurotransmitters, OCB= Oligoclonal Bands, PCH6= pontocerebellar hypoplasia type 6, PNPO= pyridoxal 5′-phosphate oxidase, RARS2= arginyl-tRNA synthetase 2, RCE= respiratory chain enzymes, UA= undetermined aetiology, VGKC= voltage gated potassium channel. *On cardiac inotropic support (dopamine intravenous infusion) at the time of CSF sampling, **Blood lactate elevated 8.5 mmol/l, normal muscle RCE activity. ***POLG negative, liver/ muscle RCE: low complex IV activity. **** Levels of 3-OMD in AADC deficiency range from 562 to 6507 nmol/l, mean 2250 nmol/L (personal communication, National Neurotransmitter Service, UK)
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The original article was corrected.
Footnotes
The online version of the original article can be found at 10.1007/s10545-018-0227-7