Literature DB >> 35076458

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.

Johannes Spenger1, Esther M Maier2, Katharina Wechselberger3, Florian Bauder3, Melanie Kocher4, Wolfgang Sperl1, Martin Preisel1, Katharina A Schiergens2, Vassiliki Konstantopoulou5, Wulf Röschinger6, Johannes Häberle7, Thomas Schmitt-Mechelke3, Saskia B Wortmann1, Ralph Fingerhut7,8.   

Abstract

There was an error in the original publication [...].

Entities:  

Year:  2021        PMID: 35076458      PMCID: PMC8788418          DOI: 10.3390/ijns8010002

Source DB:  PubMed          Journal:  Int J Neonatal Screen        ISSN: 2409-515X


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.
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1.  Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.

Authors:  Johannes Spenger; Esther M Maier; Katharina Wechselberger; Florian Bauder; Melanie Kocher; Wolfgang Sperl; Martin Preisel; Katharina A Schiergens; Vassiliki Konstantopoulou; Wulf Röschinger; Johannes Häberle; Thomas Schmitt-Mechelke; Saskia B Wortmann; Ralph Fingerhut
Journal:  Int J Neonatal Screen       Date:  2021-06-18
  1 in total

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