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Journal of Inherited Metabolic Disease

, Volume 41, Issue 6, pp 1299–1301 | Cite as

Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

  • A. Papandreou
  • S. Rahman
  • C. Fratter
  • J. Ng
  • E. Meyer
  • L. J. Carr
  • M. Champion
  • A. Clarke
  • P. Gissen
  • C. Hemingway
  • N. Hussain
  • S. Jayawant
  • M. D. King
  • B. J. Lynch
  • L. Mewasingh
  • J. Patel
  • P. Prabhakar
  • V. Neergheen
  • S. Pope
  • S. J. R. Heales
  • J. Poulton
  • Manju A. Kurian
Correction
  • 428 Downloads

Correction to: J Inherit Metab Dis (2018)

  https://doi.org/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)

The publisher apologises for the inconvenience caused.

The original article was corrected.

Copyright information

© SSIEM 2018

Authors and Affiliations

  • A. Papandreou
    • 1
    • 2
    • 3
  • S. Rahman
    • 4
    • 5
  • C. Fratter
    • 6
  • J. Ng
    • 1
  • E. Meyer
    • 1
  • L. J. Carr
    • 2
  • M. Champion
    • 7
  • A. Clarke
    • 8
  • P. Gissen
    • 3
    • 5
    • 9
  • C. Hemingway
    • 2
  • N. Hussain
    • 10
  • S. Jayawant
    • 11
  • M. D. King
    • 12
  • B. J. Lynch
    • 13
  • L. Mewasingh
    • 14
  • J. Patel
    • 15
  • P. Prabhakar
    • 2
  • V. Neergheen
    • 16
  • S. Pope
    • 16
  • S. J. R. Heales
    • 16
    • 17
  • J. Poulton
    • 18
  • Manju A. Kurian
    • 1
    • 2
  1. 1.Molecular Neurosciences, Developmental Neurosciences ProgrammeUCL Great Ormond Street Institute of Child HealthLondonUK
  2. 2.Department of NeurologyGreat Ormond Street Hospital for ChildrenLondonUK
  3. 3.Genetics and Genomics Medicine ProgrammeUCL Great Ormond Street Institute of Child HealthLondonUK
  4. 4.Mitochondrial Research Group, Genetics and Genomic Medicine ProgrammeUCL Great Ormond Street Institute of Child HealthLondonUK
  5. 5.Metabolic DepartmentGreat Ormond Street Hospital for ChildrenLondonUK
  6. 6.Oxford Medical Genetics LaboratoriesOxford University Hospitals NHS Foundation TrustOxfordUK
  7. 7.Department of Inherited Metabolic DiseaseEvelina London Children’s HospitalLondonUK
  8. 8.Paediatric Neurology DepartmentSt George’s University HospitalLondonUK
  9. 9.UCL-MRC Laboratory of Molecular Cell BiologyLondonUK
  10. 10.Department of Paediatric NeurologyUniversity Hospital of LeicesterLeicesterUK
  11. 11.Department of Paediatric NeurologyJohn Radcliffe HospitalOxfordUK
  12. 12.Department of Paediatric Neurology and Clinical NeurophysiologyChildren’s University HospitalDublinIreland
  13. 13.Department of Neurology and Clinical NeurophysiologyChildren’s University HospitalDublinIreland
  14. 14.Department of Paediatric NeurologyImperial College Healthcare NHS TrustLondonUK
  15. 15.Department of Paediatric NeurologyBristol Royal Hospital for ChildrenBristolUK
  16. 16.Neurometabolic UnitNational Hospital for Neurology and NeurosurgeryLondonUK
  17. 17.Department of Paediatric Laboratory MedicineGreat Ormond Street Hospital for ChildrenLondonUK
  18. 18.Nuffield Department of Women’s and Reproductive HealthUniversity of OxfordOxfordUK

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