All Episodes

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