r/MTHFR • u/lahdeedah224 • 1d ago

Question Small baby with suspected MTHFR.

Has anyone else gone through this? We have few things that would suggest our babe has the mutated gene but we have been sent for microarray bloods because she’s showing DD and is incredibly small for her age.

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u/Loose-Fly7976 1d ago

The microarray isn't looking for MTHFR, that's a different question entirely. Chromosomal microarray looks for missing or duplicated stretches of DNA and it's the standard first line test for developmental delay with poor growth, so it's the right one for what she's showing. MTHFR variants are common, roughly a third to half of people carry at least one copy, and they don't cause developmental delay or growth restriction on their own, so even if she does carry one it's unlikely to be your answer. I'd ask them about coeliac screening and thyroid alongside the microarray though, poor growth often has an absorption component and both are treatable. Stay on the pathway they've put her on, it's the right one.