Professors Jun Kido, Johannes Häberle and Fanny Mochel discuss their recent work on Urea Cycle Disorders to hi-light the significance of this group of diseases. Jun and Johannes collaborated on a large natural history study in Japan of over 270 patients and Fanny recently reported on a large cohort of adults presenting with disease from 16-86 years of age. All three relate these findings to the first revision of the Guidelines for Management published in 2019.

Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan

Jun Kido, et al

https://doi.org/10.1002/jimd.12384

Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients

Ségolène Toquet, et al

https://doi.org/10.1002/jimd.12403

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Johannes Häberle, et al

https://doi.org/10.1002/jimd.12100

Professor Robin Lachmann of the Charles Dent Metabolic Unit discusses the science behind Enzyme Replacement Therapy and Gene Therapy and explains why these do, and sometimes do not, work in Lysosomal Storage Disorders. Professor Lachmann also discusses the progress towards establishing adult metabolic services in the UK and elsewhere.

Treating lysosomal storage disorders: What have we learnt?

Robin H. Lachmann

https://doi.org/10.1002/jimd.12131

Education and training in adult metabolic medicine: Results of an international survey

Annalisa Sechi, et al

https://doi.org/10.1002/jmd2.12044

Johannes Zschocke, Shamima Rahman, and Carlos Ferreira join hosts James Nurse and Eva Moreva to discuss their recent paper on the ICIMD, a new classification system that eloquently organises all things metabolic. They explain what's included, why it is necessary and just how simple it all is. Interested listeners should also read: Quo vadis: the re-definition of “inborn metabolic diseases” (https://doi.org/10.1007/s10545-015-9893-x)

An International Classification of Inherited Metabolic Disorders

Carlos R. Ferreira et al.

https://onlinelibrary.wiley.com/doi/10.1002/jimd.12348

Dr Terry Derks is joined by co-author, collaborator and IMD parent, Sebastiaan te Boekhorst to discuss the emergencyprotocol.net website, an initiative to empower families and standardise care for children with FAOD and GSDs. Alongside Terry and Sebastiaan are Enrique Landelino “Lande” Contreras and Marta D’Agosto, parents of Nina, a little glycogen storage disease warrior, sharing their thoughts on what this work means to them.

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net

Alessandro Rossi et al.

https://doi.org/10.1002/jimd.12386

View from inside: Nina, Glycogen storage disease warrior

Written by Nina's Parents: Enrique Landelino “Lande” Contreras and Marta D'Agosto

https://doi.org/10.1002/jimd.12246

The Congenital Disorders of Glycosylation are a rapidly growing group of IMDs but can present a number of diagnostic challenges. In this podcast, Dr Julien Park, Dr Robert Mealer, and Professor Thorsten Marquardt discuss an additional technique for assessing glycosylation and its role in the diagnosis and management of SLCC39A-CDG.

N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency

Julien H. Park et al.

https://doi.org/10.1002/jimd.12306

Professor Judith Fridovich-Keil has been researching galactosemia for over 20 years and it was a privilege to welcome her to the JIMD podcast. The Professor and one of her former lab students and now medical student, Jessica MacWilliams, discuss the promise of new treatments, what drives their interest in galactosemia and a new method for formally assessing fine motor control in these patients.

A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT‐null rat pups

Shauna A. Rasmussen et al.

https://doi.org/10.1002/jimd.12311

Hand fine motor control in classic galactosemia

Jessica MacWilliams et al.

https://doi.org/10.1002/jimd.12376

Dr Patrick Forny and Dr Matthias Baumgartner join our social media editor to discuss their work on the first revision to the guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia. This follow-up to a very popular resource takes a new approach to reviewing evidence and discusses the latest advances in the field.

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Patrick Forny et al.

https://doi.org/10.1002/jimd.12370

Dr Monique Williams joins us on the podcast to discuss the European experience of transplantation in Inherited Metabolic Disease. There’s currently no central record of procedures or outcomes and Dr Williams and her team are keen to standardise management around transplant and ensure that there is a robust evidence base.

Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data

Femke Molema et al.

https://doi.org/10.1002/jimd.12318

Authors Dr Kim Hemsley and Nazzmer Nazri, from the Childhood Dementia Research Group, are joined by their colleague Dr Nick Smith to discuss their recent paper, as well as the wider implications of heterozygosity for Lysosomal Storage Disorders (LSDs) and whether these are associated with early-onset neurodegenerative disease. 50000 children a year are born with conditions associated with childhood dementia and as many as 1 in 40 people carry mutations associated with LSDs so the implications of their work are potentially very wide-ranging.

Is SGSH heterozygosity a risk factor for early‐onset neurodegenerative disease?

Meghan L. Douglass et al.

https://doi.org/10.1002/jimd.12359

It was a pleasure to be joined by the inimitable Professor Lakshminarayan Ranganath to discuss all things AKU. Ranga spoke about the outcomes of two recent papers looking at his centre’s experience using Nitisinone in these patients but also explains disease physiology, the history of drug discovery, new insights into the disease and upcoming research; 120 years of metabolic medicine in 25 minutes.

Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic acid lowering therapy in a large cohort of 87 patients

Lakshminarayan R. Ranganath, Milad Khedr, Sobhan Vinjamuri & James A. Gallagher

https://doi.org/10.1002/jimd.12363

Characterising the arthroplasty in spondyloarthropathy in a large cohort of eighty‐seven patients with alkaptonuria

Lakshminarayan R. Ranganath, James A. Gallagher, John Davidson & Sobhan Vinjamuri

https://doi.org/10.1002/jimd.12340