Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series

Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series

ABSTRACT Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of folate metabolism. A number of phenotypic findings have been identified to date, and we hereby wish to expand its phenotype based on our Irish experience of the condition. We follow three children with MTHFR de...

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Bibliographic Details
Main Authors: Eimear Loftus, Zaineb Elbishari, Patricia Fitzsimons, Caoimhe Howard, Yusra Sheikh, Bryan Lynch, Ellen Crushell, Ina Knerr
Format: Article
Language:English
Published: Wiley 2025-07-01
Series:Clinical Case Reports
Subjects:
folate
homocysteine
methylene tetrahydrofolate reductase deficiency
newborn screening
rare disease
Online Access:https://doi.org/10.1002/ccr3.9660
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https://doi.org/10.1002/ccr3.9660

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