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IJNSInternational Journal of Neonatal Screening
  • Correction
  • Open Access

31 December 2021

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32

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1
Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria
2
Division of Metabolism, Dr. von Hauner Children’s Hospital, D-80337 Munich, Germany
3
Division of Neuropediatrics, Children’s Hospital Lucerne, CH-6004 Lucerne, Switzerland
4
Kinderarztpraxis Arche, CH-3270 Aarberg, Switzerland
There was an error in the original publication [1]. In patient 2 and 3, a mutation (p.Arg257Glu) is mistakenly documented. Instead, the mutation is p.Arg257Gln. A correction has been made to Section 2. Case Reports, 2.2. Case 2, Paragraph 3; Section 2. Case Reports, 2.3. Case 3, Paragraph 1; Section 3. Results, Paragraph 1; Section 4. Discussion, Paragraph 1:
Section 2. Case Reports, 2.2. Case 2, Paragraph 3: At the age of 10 years, genetic testing revealed previously described compound heterozygous variants in GCDH (p.Arg257Gln, p.Met405Val) [11,12], confirming the diagnosis of GA-1.
Section 2. Case Reports, 2.3. Case 3, Paragraph 1: After the diagnosis was made (compound heterozygous variants in GCDH: p.Arg257Gln and p.Met405Val), she was admitted during an infection with poor oral intake, and a clear deterioration of the movement disorder was observed.
Section 3. Results, Paragraph 1: Patients 2 and 3 were compound heterozygous for p.Arg257Gln and p.Met405Val, patient 1 was compound heterozygous for p.Gly241Val and p.Gly390Ala, and patient 4 was compound heterozygous for p.Arg257Trp and the novel variant p.Lys170Asn.
Section 4. Discussion, Paragraph 1: Patients 2 and 3 are compound heterozygous for a previously described severe mutation (p.Arg257Gln) with 0% residual activity [11] and a milder mutation (p.Met405Val) with 4–25% residual activity that is more prevalent in African patients [12].
The authors apologize for any inconvenience caused and state that the scientific conclusions are unaffected. The original publication has also been updated.

Reference

  1. Spenger, J.; Maier, E.M.; Wechselberger, K.; Bauder, F.; Kocher, M.; Sperl, W.; Preisel, M.; Schiergens, K.A.; Konstantopoulou, V.; Röschinger, W.; et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32. [Google Scholar] [CrossRef] [PubMed]
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