Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.
Hannah FraserJulia GeppertRebecca JohnsonSamantha JohnsonMartin ConnockAileen ClarkeSian Taylor-PhillipsChris StintonPublished in: Orphanet journal of rare diseases (2019)
There is some evidence that dietary management following screen-detection might be associated with a lower incidence of some LCHAD and MTP deficiency-related complications. However, the evidence base is limited by small study sizes, quality issues and risk of confounding. An internationally collaborative research effort is needed to fully examine the risks and the benefits to pre-emptive dietary management with particular attention paid to disease severity and treatment group.