In the latest podcast we've returning guest Professor Thorsten Marquardt and his colleague Dr Jörn Oliver Sass talking about their work with 3-Hydroxyisobutyrate dehydrogenase deficiency. Thorsten reports their success in using a low valine diet for an affected patient and Oliver discusses the challenge of differentiating disorder metabolism from disease.
3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism
Melanie Meyer et al
https://doi.org/10.1002/jimd.12410
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