JIMD Podcasts

Dr Nour Elkhateeb describes his group's experience managing a patient with homocystinuria who developed paracetamol toxicity and was subsequently treated with N-acetylcysteine.

Paracetamol toxicity in classic homocystinuria: Effect of N-acetylcysteine on total homocysteine

Nour Elkhateeb, et al

https://doi.org/10.1002/jmd2.12363

Dr Sean Froese returns to the podcast alongside Professor Wyatt Yue to discuss cobalamin, crystallography and consuming raw liver.

The complex machinery of human cobalamin metabolism

Thomas J. McCorvie, et al

https://doi.org/10.1002/jimd.12593

Merel Post discusses her group's work to describe 6 individuals with MOGS-CDG and the utility of a tetrasaccharide biomarker for confirming diagnosis and possibly for treatment monitoring in future.

MOGS-CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases

Merel A. Post, et al

https://doi.org/10.1002/jimd.12588

Dr Patrick Forny and Dr Nikolas Boy join the podcast to discuss their recent paper that considers how guideline development feeds into research targets and how new research is integrated into guidelines.

How guideline development has informed clinical research for organic acidurias (et vice versa)

Patrick Forny, et al

https://doi.org/10.1002/jimd.12586

Dr Ruqaiah Altassan describes the successful heart transplantation in a child with PGM1-CDG.

Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG)

Ruqaiah Altassan, et al

https://doi.org/10.1002/jmd2.12350

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AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase I deficiency (PGM1-CDG).

Balakrishnan et al

https://www.sciencedirect.com/science/article/abs/pii/S193152442300004X?via%3Dihub

Dr Milad Khedr, Dr Nick Sireau and Professor Ranganath discuss a decade of success for the UK National Alkaptonuria Centre and how close integration with the AKU Society works to provide better care for all patients.

First decade anniversary of the United Kingdom National Alkaptonuria Centre

Milad Khedr, et al

https://doi.org/10.1002/jmd2.12340

Dr Sean Froese and Dr Charlotte Ramon join the podcast to discuss the different hypotheses around cellular damage in MMA, and new insights obtained through cellular and computational models.

Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria

Charlotte Ramon, et al

https://doi.org/10.1002/jimd.12575

Dr Suzanne Jackowski shares the fruits of a career looking at Co-enzyme A and the results of recent work looking at a promising molecule in a propionic acidemia mouse model.

Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia

Chitra Subramanian, et al

https://doi.org/10.1002/jimd.12570

Dr Richard Steet discusses his group's recent work describing compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 leading to GM3 synthase deficiency.

Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency

Natasha Rudy, et al

https://doi.org/10.1002/jmd2.12353

Ashley Hertzog returns to the shortcast to discuss how ascertainment bias may hinder the assessment of clinical phenotype in patients with 3-Methylglutaconyl-CoA hydratase deficiency.

3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis

Ashley Hertzog, et al

https://doi.org/10.1002/jmd2.12332