Best Of JIMD Reports

This episode hi-lights JIMD Reports, the open access companion journal to the Journal of Inherited Metabolic Disease. We’ve chosen to hi-light 5 very different papers and are joined by 7 of the authors to discuss their work. Professor Eileen Treacy discusses Trimethylaminuria, Dr Khushbu Patel and Dr Bill Phipps explain alternative amino acid analysis techniques (at 00:07:30), Dr Joyanna Hansen looks at what the Simplified Diet means in the US (00:13:13), Dr Amy Kritzer explains why they skimmed breast milk for an infant with a long-chain fatty acid oxidation disorder (00:19:08) and Professor Simon Heales and Dr Stefan Krywawych look at the utility of ear wax for detecting IMD (00:24:37). The genetic and biochemical basis of trimethylaminuria in an Irish cohort Samantha Doyle et al. https://doi.org/10.1002/jmd2.12028 Quantitative amino acid analysis by liquid chromatography‐tandem mass spectrometry using low cost derivatization and an automated liquid handler William S. Phipps et al. https://doi.org/10.1002/jmd2.12080 Simplified Diet for nutrition management of phenylketonuria: A survey of U.S. metabolic dietitians Joyanna Hansen et al. https://doi.org/10.1002/jmd2.12106 Use of skimmed breast milk for an infant with a long‐chain fatty acid oxidation disorder: A novel therapeutic intervention Amy Kritzer et al. https://doi.org/10.1002/jmd2.12152 Earwax: A potentially useful medium to identify inborn errors of metabolism? Stefan Krywawych et al. https://doi.org/10.1002/jmd2.12102