The Clinical Chameleons: Rethinking Remethylation Disorders

Remethylation disorders are clinical chameleons, presenting with neurological, psychiatric, ophthalmological, renal or multisystem disease.

Professor Martina Huemer joins the JIMD Podcast to discuss the revised international guidelines, including when to measure total homocysteine, newborn screening and the move towards high-dose hydroxocobalamin. She also explains why shared treatment protocols are needed to strengthen the evidence behind future recommendations.

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders Giorgia Olivieri et al. https://doi.org/10.1002/jimd.70177