Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns.
Black or African American
/ statistics & numerical data
Amino Acid Metabolism, Inborn Errors
/ diagnosis
Biomarkers
/ blood
Birth Weight
California
/ epidemiology
False Positive Reactions
Female
Gestational Age
Hispanic or Latino
/ statistics & numerical data
Humans
Infant, Newborn
Male
Methylmalonic Acid
/ blood
Neonatal Screening
Premature Birth
/ ethnology
Public Health
Genetics
Inborn metabolic disorders
Metabolism
Newborn screening
Public Health
Journal
Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456
Informations de publication
Date de publication:
01 2019
01 2019
Historique:
received:
04
10
2018
revised:
09
11
2018
accepted:
09
11
2018
pubmed:
19
11
2018
medline:
14
8
2019
entrez:
19
11
2018
Statut:
ppublish
Résumé
Analysis of California newborn screening (NBS) data revealed a high prevalence of Hispanic infants testing positive for methylmalonic acidemia (MMA), a trend seen for both true- and false-positive cases. Here we show that Hispanic infants have significantly higher levels of MMA screening markers than non-Hispanics. Preterm birth and increased birth weight were found to be associated with elevated MMA marker levels but could not entirely explain these differences. While the preterm birth rate was higher in Blacks than Hispanics, Black infants had on average the lowest MMA marker levels. Preterm birth was associated with lower birth weight and increased MMA marker levels suggesting that gestational age is the stronger predictive covariate compared to birth weight. These findings could help explain why MMA false-positive results are more likely in Hispanic than in Black infants, which could inform screening and diagnostic procedures for MMA and potentially other disorders in newborns.
Identifiants
pubmed: 30448007
pii: S1096-7192(18)30610-3
doi: 10.1016/j.ymgme.2018.11.006
pmc: PMC6361520
mid: NIHMS1512763
pii:
doi:
Substances chimiques
Biomarkers
0
Methylmalonic Acid
8LL8S712J7
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Pagination
39-42Subventions
Organisme : NICHD NIH HHS
ID : R01 HD081355
Pays : United States
Informations de copyright
Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.
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