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Mild Choline Deficiency and MTHFD1 Synthetase Deficiency Interact to Increase Incidence of Developmental Delays and Defects in Mice.

Nutrients - 28 Dec 2021

Christensen Karen E, Malysheva Olga V, Carlin Stephanie, Matias Fernando, MacFarlane Amanda J, Jacobs René L, Caudill Marie A, Rozen Rima

Abstract excerpt

Folate and choline are interconnected metabolically. The MTHFD1 R653Q SNP is a risk factor for birth defects and there are concerns that choline deficiency may interact with this SNP and exacerbate health risks. 80-90% of women do not meet the Adequate Intake (AI) for choline. The objective of this study was to assess the effects of choline deficiency on maternal one-carbon metabolism and reproductive outcomes in...

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PMID: 35011003
DOI: 10.3390/nu14010127
PMCID: PMC8747146

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