JIMD Podcasts

Maria Veiga-da-Cunha, Claudia Soler-Alfonso and Sarah Grünert join the podcast to talk about Empagliflozin, a repurposed drug with impressive efficacy in GSD 1b and G6PC3 deficiency.

Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5

Cécile Boulanger, et al

https://doi.org/10.1002/jimd.12509

Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment

Eran Tallis, et al

https://doi.org/10.1002/jmd2.12304

Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib

Sarah Catharina Grünert, et al

https://doi.org/10.1002/jmd2.12295

Lydia Healy, Meabh O'Shea and Professor Ahmad Ardeshir Monavari report the Irish experience with GA1, both before and after the introduction of new born screening for the condition.

Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients

Lydia Healy, et al

https://doi.org/10.1002/jmd2.12302

Dr Mary Kay Koenig describes the use of elamipretide in three children with different mitochondrial disorders. Her group's work provides dosing parameters for the use of elamipretide in patients <12 years of age with mitochondrial diseases caused by pathogenic variants that impair membrane phospholipid remodelling.

Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases

Mary Kay Koenig, et al

https://doi.org/10.1002/jmd2.12335

In this podcast, Dr Chuck Venditti of the National Human Genome Research Institute, discusses his passion for MMA, the role of screening and the mechanisms behind different types of genomic therapy.

Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemia

Leah E. Venturoni and Charles P. Venditti

https://doi.org/10.1002/jimd.12534

Transcription (RNA) of the genes that regulate the heme-synthesis pathway in the liver is modified in a patient with acute intermittent porphyria.

Transcriptomic study in explanted liver from a patient with acute intermittent porphyria

Jordi To-Figueras, et al

https://doi.org/10.1002/jmd2.12329

Chiel de Bode explains that orofacial abnormalities are present in all types of mucopolysaccharidosis, mucolipidosis II, and III, and therefore evaluation of orofacial health should be part of routine clinical care in these patients.

Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review

Chiel J. de Bode, et al

https://doi.org/10.1002/jmd2.12331

Dr Daniah Albokhari and Dr Andrew Edmondson speak to the podcast about 7 new patients with ALG8-CDG and discuss how their knowledge of the condition helps formulate clinical guidance in this ultra-rare disease.

ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines

Daniah Albokhari, et al

https://doi.org/10.1002/jimd.12527

Maryam Ziadlou presents her work documenting an alternative approach to achieving good metabolic control in a case series of MSUD patients.

Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series

Maryam Ziadlou, and Anita MacDonald

https://doi.org/10.1002/jmd2.12327

In this Shortcast, Dr Arthavan Selvanathan of the Queensland Lifespan Metabolic Medicine Service, discusses his team's work: N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report

N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report

Arthavan Selvanathan, et al

https://doi.org/10.1002/jmd2.12318

Dr Lisette Koens joins the podcast to discuss her work that seeks to address some of the knowledge gaps that exist around eye movement disorders in late onset IMD.

Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients

Lisette H. Koens, et al

https://doi.org/10.1002/jimd.12533