Next Article in Journal
Newborn Screening in Japan—2021
Previous Article in Journal
Flow Cytometry Confirmation Post Newborn Screening for SCID in England
 
 
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Correction

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

by
Johannes Spenger
1,
Esther M. Maier
2,
Katharina Wechselberger
3,
Florian Bauder
3,
Melanie Kocher
4,
Wolfgang Sperl
1,
Martin Preisel
1,
Katharina A. Schiergens
2,
Vassiliki Konstantopoulou
5,
Wulf Röschinger
6,
Johannes Häberle
7,
Thomas Schmitt-Mechelke
3,
Saskia B. Wortmann
1 and
Ralph Fingerhut
7,8,*,†
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
5
Austrian Newborn Screening Program, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria
6
Division of Newborn Screening, Laboratory Becker & Colleagues, D-81671 Munich, Germany
7
Division of Metabolism and Children’s Research Center, University Children’s Hospital Zurich, CH-8032 Zurich, Switzerland
8
Swiss Newborn Screening Laboratory, University Children’s Hospital Zurich, CH-8032 Zurich, Switzerland
*
Author to whom correspondence should be addressed.
Present Address: Division of Newborn Screening, Synlab MVZ Weiden GmbH, D-92363 Weiden, Germany.
Int. J. Neonatal Screen. 2022, 8(1), 2; https://doi.org/10.3390/ijns8010002
Submission received: 14 December 2021 / Accepted: 15 December 2021 / Published: 31 December 2021
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]
Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Share and Cite

MDPI and ACS Style

Spenger, J.; Maier, E.M.; Wechselberger, K.; Bauder, F.; Kocher, M.; Sperl, W.; Preisel, M.; Schiergens, K.A.; Konstantopoulou, V.; Röschinger, W.; et al. 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. Int. J. Neonatal Screen. 2022, 8, 2. https://doi.org/10.3390/ijns8010002

AMA Style

Spenger J, Maier EM, Wechselberger K, Bauder F, Kocher M, Sperl W, Preisel M, Schiergens KA, Konstantopoulou V, Röschinger W, et al. 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. International Journal of Neonatal Screening. 2022; 8(1):2. https://doi.org/10.3390/ijns8010002

Chicago/Turabian Style

Spenger, Johannes, Esther M. Maier, Katharina Wechselberger, Florian Bauder, Melanie Kocher, Wolfgang Sperl, Martin Preisel, Katharina A. Schiergens, Vassiliki Konstantopoulou, Wulf Röschinger, and et al. 2022. "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" International Journal of Neonatal Screening 8, no. 1: 2. https://doi.org/10.3390/ijns8010002

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Back to TopTop