Implementation of second-tier tests in newborn screening for the detection of vitamin B
Homocysteine
Homocystinuria
Methylcitric acid
Methylmalonic acid
Methylmalonic acidemia
Newborn screening
Propionic acidemia
Second-tier test
Vitamin B12 deficiency
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
30 04 2021
30 04 2021
Historique:
received:
12
01
2021
accepted:
16
03
2021
entrez:
1
5
2021
pubmed:
2
5
2021
medline:
29
6
2021
Statut:
epublish
Résumé
Alteration of vitamin B A screening strategy using the usual primary markers followed by the analysis of MMA, MCA and Hcys as second tier-test in the first dried blood spot (DBS) was developed and evaluated. During the period 2015-2018 a total of 258,637 newborns were screened resulting in 130 newborns with acquired vitamin B When screening for methylmalonic acidemia and homocystinuria, differential diagnosis with acquired vitamin B
Sections du résumé
BACKGROUND
Alteration of vitamin B
METHODS
A screening strategy using the usual primary markers followed by the analysis of MMA, MCA and Hcys as second tier-test in the first dried blood spot (DBS) was developed and evaluated.
RESULTS
During the period 2015-2018 a total of 258,637 newborns were screened resulting in 130 newborns with acquired vitamin B
CONCLUSIONS
When screening for methylmalonic acidemia and homocystinuria, differential diagnosis with acquired vitamin B
Identifiants
pubmed: 33931066
doi: 10.1186/s13023-021-01784-7
pii: 10.1186/s13023-021-01784-7
pmc: PMC8086297
doi:
Substances chimiques
Vitamins
0
Homocysteine
0LVT1QZ0BA
Methylmalonic Acid
8LL8S712J7
Vitamin B 12
P6YC3EG204
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
195Commentaires et corrections
Type : ErratumIn
Références
J Pediatr Hematol Oncol. 2004 Apr;26(4):270-1
pubmed: 15087959
J Pediatr. 2020 Jan;216:165-172.e4
pubmed: 31604629
Mol Genet Metab Rep. 2018 Jan 11;15:1-5
pubmed: 29387561
J Child Neurol. 2015 Apr;30(5):641-3
pubmed: 24453156
Eur J Pediatr. 1991 Jan;150(3):205-8
pubmed: 2044594
Mol Genet Metab. 2008 Apr;93(4):475-80
pubmed: 18164228
J Pediatr. 2020 Jan;216:9-11.e1
pubmed: 31610929
Clin Chem. 2007 Jul;53(7):1364-9
pubmed: 17510301
J Pediatr. 1992 Nov;121(5 Pt 1):710-4
pubmed: 1432418
J Pediatr. 2001 Jan;138(1):10-7
pubmed: 11148506
Ann Nutr Metab. 2020;76(4):268-276
pubmed: 32683363
Pediatr Blood Cancer. 2016 Apr;63(4):740-2
pubmed: 26806811
J Pediatr. 2008 May;152(5):731-3
pubmed: 18410783
J Inherit Metab Dis. 2008 Jun;31(3):350-60
pubmed: 18563633
J Pediatr. 2010 Jul;157(1):162-3
pubmed: 20400092
J Inherit Metab Dis. 2014 Nov;37(6):881-7
pubmed: 24970580
Br J Haematol. 2006 Jul;134(2):125-36
pubmed: 16846473
Semin Perinatol. 2015 Apr;39(3):171-87
pubmed: 25979780
Mol Genet Metab Rep. 2020 Jan 02;22:100553
pubmed: 31908952
JIMD Rep. 2014;16:65-73
pubmed: 24997714
Clin Chim Acta. 2015 Oct 23;450:342-8
pubmed: 26368264
Genes (Basel). 2020 Aug 29;11(9):
pubmed: 32872442
PLoS One. 2017 Sep 15;12(9):e0184897
pubmed: 28915261
J Inherit Metab Dis. 2007 Aug;30(4):585-92
pubmed: 17643193
J Inherit Metab Dis. 2015 Nov;38(6):1007-19
pubmed: 25762406
J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S395-404
pubmed: 18956250
Clin Biochem. 2014 Dec;47(18):312-7
pubmed: 25204964
Pediatrics. 2013 Jul;132(1):e257-61
pubmed: 23776111
Proc Natl Acad Sci U S A. 2007 Dec 11;104(50):19995-20000
pubmed: 18056804
JAMA. 2011 Mar 23;305(12):1198-200
pubmed: 21427371
Eur J Pediatr. 2004 Apr;163(4-5):196-201
pubmed: 14762712
J Pediatr Endocrinol Metab. 2020 May 26;33(5):639-645
pubmed: 32304307
Haematologica. 2005 Dec;90(12 Suppl):ECR45
pubmed: 16464760
Hum Mutat. 2009 Nov;30(11):1558-66
pubmed: 19760748
Semin Pediatr Neurol. 2016 Nov;23(4):257-272
pubmed: 28284388
Orphanet J Rare Dis. 2014 Sep 02;9:130
pubmed: 25205257