All Episodes
JIMD Podcasts — 276 episodes
The Adult PKU brain: from phenylalanine exposure to brain aging
Research Round-Up: Sterols and Bile Acids
Beyond Metabolic Control: Optimising Nutrition in Inborn Errors of Protein Metabolism
Shortcast: Adult Refsum: Reducing Circulating Phytanic Acid Levels With Dietary Interventions
Hidden Disease or Uncertain Risk? Rethinking IMD Diagnosis and Newborn Screening
IMD Research Round-Up: Phenylketonuria
Rapamycin and Pharmacogenomics in Niemann-Pick C
Shortcast: Clinical Outcomes in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease
Feeding the Microbiome: Rethinking Protein and Propionate in MMA
Shortcast: Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB
High Glycine, Different Diagnoses
IMD Research Round-Up: Homocystinuria
Revisiting D-Bifunctional Protein Deficiency
Metabolic Mysteries: Two adult siblings with liver disease and haematological abnormalities
The Grey Zone in ABCD1 Variant Classification
Metabolic Mysteries: A 57-year-old man with vomiting and worsening confusion
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 Remodelling 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
IMD Research Round-Up: Methylmalonic Aciduria
Shortcast: Sleep quality in children with hepatic GSDs, a prospective observational pilot study
NAXD deficiency
Imaging readiness in the gene therapy era
IMD Research Round-Up: Congenital Disorders of Glycosylation
Exploring the disease burden in Arginase 1 deficiency
Shortcast: D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS)
Citrulline: beyond the urea cycle
Metabolic mysteries: Hypoglycemia? Don't forget the urine
Metabolic mysteries: New weakness, poor balance and paresthesia at 55 years of age
Transition & executive function in MSUD
Shortcast: TFP deficiency caused by a deep intronic deletion leading to aberrant splicing
CBS Deficiency in the E-HOD Registry
The Treatabolome: Don't miss the chance to treat!
Velmanase alfa for alpha-mannosidosis
An update on autophagy disorders
Models in Leigh Syndrome
KAMPER: Kuvan (BH4) in phenylketonuria
Dietary management in GSD type 3a
Footprints of IMD: Psychiatric presentations... with Gabriella Horvath
Shortcast: Two successful pregnancies in patients taking Volanesorsen for FCS
RNA based therapies in Urea Cycle Disorders
Brain changes in infantile Pompe disease
Shortcast: Metabolic management of a successful pregnancy in FBPase deficiency
Gene therapy for mitochondrial disorders
Adult outcomes in classic galactosemia
Footprints of IMD: Metabolic cardiovascular disease... with Carlos Ferreira
Neuronopathic gaucher disease
Chorioretinopathy In LCHADD
Footprints of IMD: Metabolic myopathies... with Corrado Angelini
Flies, plants and classic galactosemia
Shortcast: Do early-treated adults with phenylketonuria sense high phenylalanine levels?
Fatty acid homeostasis
Metabolic mysteries: Progressive neurological symptoms after a change in diet
Heterozygous DHDDS variants
Footprints of IMD: Metabolic Epilepsies... with Phillip Pearl
Gene replacement therapies for inherited disorders of neurotransmission: Progress in SSADH
Shortcast: Galactokinase 1 is the source of elevated gal-1-phosphate in a galactosemia mouse model
Dietary management for pyridoxine-dependent epilepsy
Footprints of IMD: Metabolic Liver Disease... with David Cassiman
Shortcast: Normal transferrin glycosylation does not rule out severe ALG1 deficiency
Speech & neural oscillation in classic galactosemia
Shortcast: Late-onset refractory hemolytic anemia in siblings treated for MTRR deficiency
Lessons from adult metabolic medicine
Metabolic mysteries: A treatable condition masquerading as TORCH Infection
Footprints of IMD: the IEMbase and Cerebral Palsy... with Gabriella Horvath
Pregnancy in phenylketonuria
Acute liver failure? Think metabolic
Aicardi-Goutières syndrome
Shortcast: Pediatric palliative care for IMD: 20-year survey of outpatients at a Brazilian hospital
Pregnancy in Urea Cycle Disorders
Shortcast: Clinical experience with glycerol phenylbutyrate in 20 patients with UCDs
Liver directed gene therapy
Shortcast: Psychosocial issues and coping strategies in families affected by long-chain FAOD
BH4 in tyrosine hydroxylase deficiency
Shortcast: Lysinuric protein intolerance exhibiting RTA/Fanconi syndrome in a Japanese woman
How to proceed after a "negative" exome
Shortcast: Neuropsychological stability in classical galactosemia: A pilot study in 10 adults
Food or medicine? Nutritional therapies in IMD
Metabolic mysteries: Three children with neurological symptoms and coagulopathy
Movement disorders and mRNA therapy in Arginosuccinic aciduria
Metabolic mysteries: Recurrent miscarriage and congenital anomalies
Hepatic presentations in mitochondrial depletion syndromes
Shortcast: Lysosomal storage disorders identified in adult population from India
Genomic newborn screening: are we entering a new era of screening?
Shortcast: A case of hyperlysinemia identified by urine newborn screening
JIMD Editor's Roundtable (2023)
Shortcast: Relationship between plasma & capillary blood Phe using volumetric collection devices
Deciphering pathogenicity with CRISPR/Cas9
Shortcast: Grip strength in patients with galactosemia and in a GALT-null rat model
Gene therapy in Glycogen Storage Disorders
Shortcast: Screening data for 19 patients with late-onset Pompe disease for a phase I clinical trial
CAD deficiency: Beyond the genetics
Shortcast: Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales
Shortcast: PIGO-CDG: A case study, phenotypic expansion, lit review, and nosological considerations
Comorbidity in acute porphyria
Metabolic mysteries: Post-partum ataxia and confusion
Shortcast: A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD
An oral enzyme therapy for MSUD
Shortcast: Comparison of subcutaneous and intravenous moss-aGal in Fabry disease mouse model
Metabolic mysteries: A child with dystonia and MRI changes
Fetal gene therapy
Shortcast: Interstitial lung disease and pancreatic exocrine insufficiency in CADDS
SSIEM 2022 special episode
Gene therapy in urea cycle disorders: a historical perspective and future prospects
Possible substrate reduction therapy in disorders of valine and isoleucine metabolism
Shortcast: Prolonged respiratory failure treatment in isolated homocysteine remethylation defects
A clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency
Shortcast: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease
Pregnancy in acute porphyria
Gene therapies in mucopolysaccharidoses
Shortcast: Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant
Racial diversity and the S135L variant in galactosemia
Shortcast: Increased prevalence of Parkinson's disease in alkaptonuria
Shortcast: Late infantile & adult-onset MLD due to novel missense variants in the PSAP gene
Gene therapy in a mouse model of MSUD
Key terms and definitions In porphyria
PGM1-CDG: isoforms, phenotyping and gene therapy
A novel UHPLC/HRAM MS approach in LSD screening
Shortcast: Early treatment of neonatal diabetes with oral glibenclamide in extreme prematurity
Cholestasis, oxysterols and clinical conundrums
Shortcast: The remarkable journey of one female individual with OTC deficiency diagnosed post-mortem
Fractionated plasma N-glycan profiling and ATP6AP1 - CDG
Shortcast: Autonomic instability, arrhythmia & visual impairment in MTFMT related mito disease
B vitamins, drosophila and TANGO2-deficiency disorder
Shortcast: Paracetamol toxicity in classic HCU: Effect of N-acetylcysteine on total homocysteine
The complex machinery of cobalamin
Shortcast: MOGS-CDG: Quantitative analysis of a diagnostic biomarker & phenotype of 6 new cases
How guidelines drive research and research influences guidelines
Shortcast: Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency
Shortcast: First decade anniversary of the United Kingdom National Alkaptonuria Centre
Cellular Insights and Computational Modelling In MMA
Novel therapy in a propionic acidemia mouse model
Shortcast: Compound heterozygous variants in 2 sialyltransferase ST3GAL5 motifs cause GM3SD
Shortcast: 3-Methylglutaconyl-CoA hydratase deficiency: Ascertainment bias vs biochemical diagnosis
Priority Setting Partnership in Mitochondrial Disease
Shortcast: HPMRS3 (Mabry Syndrome): CSF abnormalities and correction with pyridoxine & Folinic acid
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: 3rd revision
Diagnostics, EXPLORE B and POWER in Porphyria
Shortcast: Isolated neurological presentations of mevalonate kinase deficiency
Novel CSF biomarkers in GLUT1 deficiency syndrome
Shortcast: Management of pregnancy in a patient with LCHADD
Shortcast: Infantile-onset Pompe disease with neutropenia
Sex Specific Screening in X-linked Adrenoleucodystrophy
Shortcast: Direct replacement of oral benzoate with glycerol phenylbutyrate in children with UCD
Everyone's talking about empagliflozin
Shortcast: GA 1: Diagnosis, clinical features & long-term outcome in a cohort of 34 Irish patients
Shortcast: Use of Elamipretide in patients assigned treatment in the compassionate use program
Genomic Therapies In IMD: Lessons from MMA
Shortcast: Transcriptomic study in explanted liver from a patient with acute intermittent porphyria
Shortcast: Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III
Moving towards management guidelines in ALG8 - CDG
Shortcast: Alternative sources of valine and isoleucine for prompt leucine reduction in MSUD
Shortcast: N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria
Eye movement disorders in Inherited Metabolic Disease
Shortcast: The prevalence of inherited metabolic disorders in the Estonian population over 30 years
Shortcast: Respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant
The doxycycline paradox in mitochondrial disease
Training in Adult Metabolic Medicine
Shortcast: A cross-sectional natural history study of aspartylglucosaminuria
Diagnosis and Discovery: Insights from the Undiagnosed Diseases Program
Future Therapies in Galactosaemia
Mitochondrial Trifunctional Protein Deficiency
Reproductive Genetic Carrier Screening in IMD
Glitazones in X-linked adrenoleukodystrophy
Betaine in early onset MTHFR Deficiency
Shortcast: Clinical spectrum of early onset “Mediterranean” MNGIE
Gls2 knockdown - a different approach for Urea Cycle Disorders?
Shortcast: Glycogen storage disease type IIIa in pregnant women
Lost in translation — Challenges in drug development for rare disease
Machine learning in newborn screening
Barth Syndrome (part 2): Screening, modelling and more
Barth Syndrome (part 1): Disease overview and future treatments
CDG or not CDG
Shortcast: High penetrance and recurrent attacks in a family with hereditary coproporphyria
Dentistry in Inherited Metabolic Disease
Shortcast: Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort
Shortcast: A serendipitous journey to a promoter variant in OTC
NGLY1 deficiency & epilepsy
Molybdenum Cofactor Deficiency
Shortcast: Chondroitin sulfate disaccharide as a biomarker for MPS IVA
Shortcast: A mild phenotype of mitochondrial trifunctional protein deficiency
Treatment In Alkaptonuria
Shortcast: Acute and early developmental outcomes of children with Duarte galactosemia
Arginase Deficiency
Shortcast: Two siblings with galactose mutarotase deficiency: Clinical differences
AAV-gene therapy in galactosemia patient fibroblasts
Unravelling the Secrets Of PMM2-CDG
Transplant Outcomes in X-ALD
Positive Negatives - genistein and resveratrol
100 Years Of IMD (in Austria)
Mitochondrial Disease Special Issue: Novel Therapies
Organoids in IMD
MPS 1: Where are we now?
Easy as ABC...D3
Assembling the treatment puzzle in Niemann Pick C
McArdle disease - expanding the clinical phenotype
Gene Therapy in CBS Deficiency
Cognitive and psychosocial outcomes in early-treated PKU
Disease Or Disorder: New Insights in Valine Degradation
Inborn Errors of the Malate Aspartate Shuttle
The Young Metabolists Society
Why everyone needs to know about Urea Cycle Disorders
Treatment In Lysosomal Storage Disorders
An International Classification of Inherited Metabolic Disorders
Emergency Protocol.net
N-glycome analysis in Congenital Disorders of Glycosylation
Galactosemia: An old diagnosis with new ideas
Diagnosis and management of methylmalonic acidaemia and propionic acidaemia
Transplantation in IMD
LSD Heterozygosity and Neurodegenerative Disease
Everything about Alkaptonuria
A narrative review of GSD III
ATP6V1A related metabolic cutis laxa
All About ALD
Pyridoxine-dependent epilepsy
Talking about Triheptanoin
It takes two to TANGO2
Characterising late-onset MTHFR deficiency
Best Of JIMD Reports
MSD: The diagnosis needs the patients
Taking a position on MNGIE
Newborn screening: To WES or not to WES
Ketogenic diets in inherited metabolic disease
Towards Trials in Mitochondrial Disease
PGM1-CDG with Professor Morava
Simplifying Inherited Metabolic Disease
IMD and Susceptibility to COVID19
Mitochondria, medication and POLG
PKU And Ageing