A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns.
3-Methylcrotonyl-CoA carboxylase deficiency
false-positive newborn screening
maternal inborn errors of metabolism
newborn screening
primary systemic carnitine deficiency
Journal
Children (Basel, Switzerland)
ISSN: 2227-9067
Titre abrégé: Children (Basel)
Pays: Switzerland
ID NLM: 101648936
Informations de publication
Date de publication:
03 Aug 2023
03 Aug 2023
Historique:
received:
26
06
2023
revised:
22
07
2023
accepted:
01
08
2023
medline:
26
8
2023
pubmed:
26
8
2023
entrez:
26
8
2023
Statut:
epublish
Résumé
There are reports of mothers being diagnosed with inborn errors of metabolism (IEM) via positive newborn screening (NBS) of their newborns. Mothers with IEM are often considered to have mild cases of little pathological significance. Based in Niigata Prefecture, this study aimed to investigate mothers newly diagnosed with IEM via positive NBS in their newborns using tandem mass spectrometry, and to clarify the disease frequency and severity. This was a single-institution, population-based, retrospective study. The subjects were mothers whose newborns had false-positive NBS, among 80,410 newborns who underwent NBS between April 2016 and May 2021. there were 3 new mothers were diagnosed with IEM (2 with primary systemic carnitine deficiency (PCD) and 1 with 3-methylcrotonyl-CoA carboxylase deficiency) out of 5 who underwent examination among 18 false positives. The opportunity for diagnosis was low C0 and high C5-OH acylcarnitine levels in their newborn. Two novel New mothers with IEM cannot be considered as mild cases and need to be treated when necessary. The two novel
Sections du résumé
BACKGROUND
BACKGROUND
There are reports of mothers being diagnosed with inborn errors of metabolism (IEM) via positive newborn screening (NBS) of their newborns. Mothers with IEM are often considered to have mild cases of little pathological significance. Based in Niigata Prefecture, this study aimed to investigate mothers newly diagnosed with IEM via positive NBS in their newborns using tandem mass spectrometry, and to clarify the disease frequency and severity.
METHODS
METHODS
This was a single-institution, population-based, retrospective study. The subjects were mothers whose newborns had false-positive NBS, among 80,410 newborns who underwent NBS between April 2016 and May 2021.
RESULT
RESULTS
there were 3 new mothers were diagnosed with IEM (2 with primary systemic carnitine deficiency (PCD) and 1 with 3-methylcrotonyl-CoA carboxylase deficiency) out of 5 who underwent examination among 18 false positives. The opportunity for diagnosis was low C0 and high C5-OH acylcarnitine levels in their newborn. Two novel
CONCLUSION
CONCLUSIONS
New mothers with IEM cannot be considered as mild cases and need to be treated when necessary. The two novel
Identifiants
pubmed: 37628339
pii: children10081341
doi: 10.3390/children10081341
pmc: PMC10452974
pii:
doi:
Types de publication
Journal Article
Langues
eng
Références
Hum Mutat. 2011 Jan;32(1):E1976-84
pubmed: 21089064
Int J Neonatal Screen. 2022 Jan 04;8(1):
pubmed: 35076455
JIMD Rep. 2015;23:67-70
pubmed: 25763512
Mol Genet Metab. 2012 Nov;107(3):281-93
pubmed: 22795865
Mol Genet Metab. 2011 May;103(1):92-5
pubmed: 21354840
Molecules. 2019 Sep 06;24(18):
pubmed: 31500110
Hum Mutat. 2013 Apr;34(4):655
pubmed: 23520115
Mol Genet Metab. 2008 May;94(1):132-4
pubmed: 18304851
JIMD Rep. 2012;2:87-90
pubmed: 23430858
Front Pediatr. 2019 Feb 26;7:50
pubmed: 30863740
Clin Chim Acta. 2021 Jan;512:166-171
pubmed: 33181153
Mol Genet Metab. 2010 May;100(1):46-50
pubmed: 20074989
J Pediatr. 2009 Dec;155(6):924-7
pubmed: 19914430
J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S79-82
pubmed: 19357990
Physiol Res. 2000;49(3):399-402
pubmed: 11043928
Hum Mutat. 2012 Jan;33(1):118-23
pubmed: 21922592
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Hum Mutat. 2017 Dec;38(12):1684-1699
pubmed: 28841266
J Pediatr. 2011 Jun;158(6):1031-2
pubmed: 21429517
Mol Genet Metab Rep. 2014 May 22;1:241-248
pubmed: 27896095