JIMD Podcasts

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

Dr Giuseppe Ronzitti and Dr Alan O’Brien discuss their recent paper of Glycogen Storage Disorder Type III. They discuss the clinical features of the condition, new insights around the age of onset of muscular symptoms and treatments in use today, as well as those being research for use in the years to come.

Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects

Édouard Berling et al.

https://doi.org/10.1002/jimd.12355

Dr Uwe Kornak and Dr Björn Fischer-Zirnsak explain all things cutis lava to our social media editor, and explain how their recent work helps further define the clinical description of ATP6V1A disease.

Expanding the clinical and molecular spectrum of ATP6V1Arelated metabolic cutis laxa

Guido Vogt MSc et al.

https://doi.org/10.1002/jimd.12341

In the 16th podcast from the Journal of Inherited Metabolic Disease, Dr Stephan Kemp and Dr Eric Mallack join our social media editor to discuss their recent papers on X-linked adrenoleucodystrophy. Dr Kemp explains how a variety of model systems are used to aid disease understanding and help in the development of new therapies, whilst Dr Mallack shares new guidance around surveillance for the onset of cerebral ALD in childhood.

MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines

Eric J. Mallack et al.

https://doi.org/10.1002/jimd.12356

Evolution of adrenoleukodystrophy model systems

Roberto Montoro et al.

https://doi.org/10.1002/jimd.12357