JIMD Podcasts

Metabolic Mysteries: Recurrent abdominal pain, “FMF” and attacks around menstruation

Tyrosine Hydroxylase Deficiency: Consensus guidelines

Shortcast: Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency

D-Glyceric aciduria: is GLYCTK really mitochondrial?

Shortcast: Drivers of Diagnostic Delay in Mito Disease: Missed Recognition of Canonical Features

mRNA therapies in liver Inherited Metabolic Diseases

Shortcast: Epilepsy Phenotype and EEG Finding of RHADS in Succinate Dehydrogenase Deficiency

Beyond Triheptanoin: Elamipretide and Cardiolipin Remodeling in TFP Deficiency

Shortcast: Treatable Neonatal MoCD Type A: Rapid Demise Despite Rapid Biochemical Diagnosis

Personalized metabolic modeling in Methylmalonic Aciduria

Shortcast: Holocarboxylase Synthetase Deficiency: Second Case Report With Neonatal Cholestasis

Vitamin and Cofactor Prescribing in Primary Mitochondrial Disease

Shortcast: Fulminant Metabolic Crisis in GSDIa: Persistent Lactic Acidosis Despite Hypo Correction

Palliative care in inherited metabolic disease: an underutilised but essential service

Shortcast: A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs

Manganese transporter disorders: diagnosis and treatment

Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants

Sixty Years of Metabolic Medicine: A Conversation with Jean-Marie Saudubray and Manuel Schiff

Continuous Glucose Monitoring in hepatic GSDs

Metabolic mysteries: Developmental delay, hepatoblastoma and a VUS

Biomarkers in Niemann-Pick type C: Preparing for Clinical Trials

Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders

Chenodeoxycholic acid in Cerebrotendinous Xanthomatosis

IMD Research Round-Up: Mitochondrial disease

First in human gene editing: a new era for IMD therapies

Metabolic mysteries: A 61-year-old with rhabdomyolysis and lifelong episodic fatigue

Geriatric IMD: Diagnosing inherited metabolic disorders in older adults

IMD Research Round-Up: Untargeted metabolomics

Pharmacological chaperones in OTC deficiency

Shortcast: Clinical and Developmental Outcomes after 50 Years of Galactosaemia NBS in Ireland

Penetrance, expressivity, and outcomes in classic galactosemia

IMD Research Round-Up: Lysosomal Storage Disorders

Adenosine Kinase

Footprints of IMD: Movement Disorders... with Dakota Peacock and Darius Ebrahimi-Fakhari

Metabolic mysteries: Incidental adrenal calcifications in a neonate

The treatment landscape in CDG

IMD Research Round-Up: Newborn Screening

ARS1 Deficiencies

Shortcast: Investigating the utility of leukocyte sialic acid measurements in Lysosomal FSASD

Diagnostic delay in Metachromatic Leukodystrophy

IMD Research Round-Up: Glycogen Storage Disorders

Future therapies in galactosemia

Metabolic mysteries: GI bleeding, gallbladder polyps and evolving developmental delay

Speech and Language in Batten disease

Metabolic Minds 2025

IMD Research Round-Up: Redox metabolism

ECHS1 deficiency and valine restriction

Metabolic mysteries: A child with episodic seizures and multiple diagnoses

Managing Metabolic Emergencies - Intoxication type disorders

IEMs in Adult Metabolic Centres: 10 Years Later