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IDH1 inhibition decreased the HTML:TML ratio, l-carnitine:TML ratio and acetylcarnitine:TML ratio in this extract without altering acetyl-CoA (Extended Data Fig

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The TMLHE exon 2 deletion is relatively common even in healthy males with an estimated frequency of 1:350 males, but is more frequent in patients with autism, suggesting that -N-trimethyllysine hydroxylase deficiency is a risk factor for autism (meta-analysis Z-score = 2.90 and p = 0.00037), although with low penetrance (2 to 4%) [164]