Associate Professor Sabine Fuchs and PhD Candidate Vivian Lehmann join the podcast to explain cholangiocyte organoids and the role they play in understanding rare disease and testing new treatments.

The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism

Vivian Lehmann, et al

https://doi.org/10.1002/jimd.12450

The podcast is joined by the wonderful Dr Sander Houten and Dr Pablo Ranea-Robles who explain their recent working looking at the ATP binding cassette ABCD3 in dicarboxylic fatty acid metabolism.

The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis

Pablo Ranea-Robles et al

https://doi.org/10.1002/jimd.12440

Dr Sandra Kingma from the Centre for Rare Diseases in Antwerp joins the podcast to discuss all things Mucopolysaccharidosis type I. Her recent paper asks 'where are we now?' and I asked her about where we are going next?

MPS I: Early diagnosis, bone disease and treatment, where are we now?

Sandra D. K. Kingma, An I. Jonckheere,

First published: 03 September 2021 https://doi.org/10.1002/jimd.12431

Dr Marc Patterson and Dr Eugen Mengel explain the challenges of treating Niemann Pick Type C. Recent studies have shown the efficacy of Miglustat and Arimoclomol but they may end up forming just part of the puzzle being built to manage this condition.

Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment

Eugen Mengel, et al

https://doi.org/10.1002/jimd.12428

Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study

Marc C. Patterson, et al

https://doi.org/10.1002/jimd.12245

Dr Chiara Pizzamiglio of the Department of Neuromuscular Diseases at Queen Square discusses her recent publication looking at a huge cohort of 197 patients with McArdle disease. Dr Pizzamiglio hi-lights the diagnostic challenges in this GSD and shows new insights into the spectrum of extra-muscular manifestations seen in the condition.

Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study

Chiara Pizzamiglio et al

https://doi.org/10.1002/jimd.12438

Professor Warren Kruger of the Fox Chase Cancer Centre in Philadelphia joins the podcast to talk about homocystinuria, successful trials in gene therapy, why it costs so much to make viruses and what inspires him.

Long-term functional correction of cystathionine β-synthase deficiency in mice by adeno-associated viral gene therapy

Hyung-Ok Lee et al

https://doi.org/10.1002/jimd.12437

Interested listeners may also wish to look at:

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Andrew A. M. Morris, et al

https://doi.org/10.1007/s10545-016-9979-0

Dr Elaine Murphy and Dr Robin Lachmann of the Charles Dent Metabolic Unit, look after over 400 adults with PKU. They join the podcast to discuss their recent work on long-term outcomes in early-treated Phenylketonuria and to hi-light some of their more interesting findings.

Long-term cognitive and psychosocial outcomes in adults with phenylketonuria

Lynne Aitkenhead et al

https://doi.org/10.1002/jimd.12413

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

Melissa Broeks speaks with the podcast about her recent paper reviewing disorders of the malate aspartate shuttle, an essential pathway supporting respiratory chain activity. Melissa provides a wonderful overview of the background and clinical significance of the MAS, all of which can be explored further in her #openaccess paper.

Inborn disorders of the malate aspartate shuttle

Melissa H. Broeks, et al

https://doi.org/10.1002/jimd.12402

The 'Junge Stoffwechselmedizin' or Young Metabolic Society is an initiative in Germany intended to support early career doctors, dieticians, scientists and nurses interested in the IMD field. Young metabolists, Dr Heiko Brennenstuhl and Dr Vanessa Kock, explain just what it's all about.

They warmly welcome anyone who shares their vision of shaping the future of metabolic medicine in Europe (and beyond) to get in touch via [email protected].

The “Young Metabolic Society”: An interest group for young professionals in the field of metabolic medicine

https://doi.org/10.1002/jimd.12409