A new MS/MS method for quantitative succinylacetone measurement improves sensitivity and specificity for diagnosing/monitoring tyrosinemia t1. ✔ Improved analytical specificity ✔ Useful for NBS follow-up and NTBC monitoring onlinelibrary.wiley.com/doi/10.1002/... #IMD #Tyrosinemia #RareDisease

TFP deficiency isn’t just an energy problem. New work suggests a role in cardiolipin remodeling, opening the door to elamipretide as add-on therapy. Prof Eduardo Vieira Neto discusses mice, fibroblasts, and the hunt for biomarkers to find responders. open.spotify.com/episode/0Hv9...

Antenatal diagnosis → planned neonatal care → avoided metabolic decompensation. This JIMD Reports case series shows how expectant management in siblings with carbonic anhydrase VA deficiency can change early outcomes in an ultra-rare IMD. 🔗 onlinelibrary.wiley.com/doi/10.1002/... #RareDisease #IMD

Ahead of #RareDiseaseDay (28 Feb), an important reminder: rare diseases can have rare presentations. Lynch et al. report adult-diagnosed GSD1b in siblings with prolonged fasting tolerance and minimal neutropenia doi.org/10.1002/jmd2... #RareDisease #GSD1b #IMD #GenomicMedicine

A sobering case of treatable molybdenum cofactor deficiency—diagnosed within hours, yet with rapid, unexpected decline before therapy could begin. In this Shortcast, Dr Molly Crenshaw reflects on urgency, optimism, and why early biochemical testing still matters open.spotify.com/episode/1p3w...

New in JIMD Reports: Open-label phase 2/3 substudy of intrathecal idursulfase-IT in children <3 years with neuronopathic MPS II. Reports long-term follow-up with generally stable cognitive assessments and reduced CSF GAG levels in a small cohort. 🔗 doi.org/10.1002/jmd2... #MPSII #HunterSyndrome# IMD

New in JIMD Reports: clinical and genetic insights into MSUD from Palestine, including neurodevelopmental outcomes after liver transplantation. A valuable real-world perspective from a resource-limited setting. 🔗 doi.org/10.1002/jmd2... #MSUD #RareDisease #IMD #LiverTransplant

Reducing the diagnostic odyssey in IMDs 🧠 Expert-designed fact sheets + AI/NLP validation using real hospital data show real promise for earlier diagnosis and referral. Open access in J Inherit Metab Dis 👉 doi.org/10.1002/jimd... #RareDisease #IMD #AIinMedicine #JIMD

Can newborn screening predict severity in VLCADD? Neonatal C18:2-carnitine (linoleylcarnitine) identifies infants at risk of severe disease immediately after NBS helping tailor treatment and monitoring from day one. 🔗 doi.org/10.1002/jimd...

Pregnancy outcomes in Gaucher disease: real-world data from the ICGG Registry. 110 imiglucerase-treated pregnancies → 88.5% live births, no stillbirths, miscarriage risk similar to the general population. 🔗 doi.org/10.1002/jimd...

Do adults with early-treated #PKU show altered brain ageing? MRI-based brain age modelling reveals a higher insular brain age gap (~6 years) despite early treatment — pointing to region-specific vulnerability rather than global ageing. 🔗 doi.org/10.1002/jimd... @emmavardy2.bsky.social

A powerful JIMD study reports a cluster of severe arginase-1 deficiency in children from Mayotte & the Comoros, linked to a founder effect. Early diagnosis = normal outcomes; delayed diagnosis = high morbidity & mortality. 🔗 doi.org/10.1002/jimd...

VUS ≠ surveillance. In The Grey Zone Project, Lund et al. propose LPC-based risk stratification for ABCD1 variants detected via newborn screening. Biochemistry — not variant label — determines monitoring intensity. Read: doi.org/10.1002/jimd... #ALD #NewbornScreening #RareDisease #JIMD

Women with Anderson–Fabry disease are still being missed. This meta-analysis shows genetic testing detects ~4× more cases than enzymatic tests in high-risk women — especially after stroke. Normal enzymes ≠ no Fabry. doi.org/10.1002/jimd... #FabryDisease #RareDisease

Largest natural-history study of arginase-1 deficiency to date (n=48). International trial data show universal motor impairment, frequent cognitive & speech deficits, reduced quality of life — and delayed diagnosis. 🔗 doi.org/10.1002/jimd...

New JIMD Reports case: severe hyperglycaemia and lactic acidosis in propionic acidemia, without hyperammonaemia. A clear look at how secondary mitochondrial dysfunction can shape acute management decisions in PA crises. doi.org/10.1002/jmd2...

RHADS is often taught as POLG-specific but it may not be. This case series describes RHADS and RHADS-like EEG patterns in SDHA deficiency, broadening the epilepsy phenotype of mitochondrial disease. Worth reading if you see refractory epilepsy + “POLG-like” EEGs. doi.org/10.1002/jmd2...

Primary mitochondrial disease supplement prescribing is 95%+ common, but globally non-uniform. No universal cocktail. Age & phenotype shape practice. Big Atlantic differences. Real risks of harm. Listen now: open.spotify.com/episode/2wdU...

Access to IMD therapies is becoming one of the defining equity challenges in rare disease. Cabello & Salinas examine why lifesaving IMD drugs remain out of reach in much of Latin America and what ethical, regulatory, and policy changes are needed to close the gap. 📄 doi.org/10.1002/jimd...

New case report in JIMD Reports: A novel PCK1 variant causing cytosolic PEPCK deficiency in two siblings, with dramatically different phenotypes, including reversible acute liver failure. Hyperglutaminemia + normal ammonia = key diagnostic clue. doi.org/10.1002/jmd2... #RareDisease #IMD #PCK1

🧠 New in JIMD: NKH is not just “high glycine”. This mouse model shows disrupted one-carbon folate metabolism, serine deficiency, and downstream lipid/myelination effects, pointing to new therapeutic targets beyond glycine lowering. 🔗 doi.org/10.1002/jimd... #NKH #IMD #Metabolism

Dr Herodes Guzman talks through a striking GSDIa case series where lactic acidosis persisted despite hypoglycaemia correction—prompting fresh thinking about mitochondrial involvement in metabolic crisis. Listen now: open.spotify.com/episode/2gRr... #GSDIa #IMD #RareDisease #MetabolicMedicine

📊 Brazilian MPS I patients show diverse pathogenic variants, including novel changes with implications for genotype–phenotype correlation. A must-read for clinicians & researchers in metabolic disease. 🔗 doi.org/10.1002/jimd... #IMD #Genomics #Pediatrics

In a multicentre cohort of 202 patients, Kristensen et al. show: • >50% develop liver disease • Highest risk in early-onset POLG • Infection-associated onset and polymerase-domain variants increase risk • Liver involvement strongly predicts poor survival doi.org/10.1002/jimd... #POLG #Mitodisease

Earlier ERT = better hearts 🫀 In infantile-onset Pompe disease, starting ERT ≤1 month leads to faster LVMI normalisation and improved cardiac remodelling. Another strong case for newborn screening and rapid treatment. 🔗 doi.org/10.1002/jmd2... #PompeDisease #IMD #NewbornScreening

Why does mitochondrial disease still take ~8 years to diagnose? This study shows most delay happens before suspicion, despite early seizures, hypotonia & stroke being documented years earlier. Recognition — not testing — is the bottleneck. doi.org/10.1002/jmd2...

Severe neonatal GABA-T (ABAT) deficiency: 3 siblings with early lethal encephalopathy, burst-suppression & cerebellar malformations. Key message: urine GABA quantification may be a useful, accessible screening test. Alammary et al doi.org/10.1002/jmd2... #IMD #NeonatalNeurology #ABAT #RareDisease

Pregnancy in long-chain FAODs: new multicentre survey (89 pregnancies, 39 women) shows generally favourable outcomes, but ~20% risk of metabolic decompensation, especially post-partum. Important data for counselling & peripartum planning. doi.org/10.1002/jimd... #FAOD #IMD #Pregnancy

CDG due to Defective Membrane Transporters: Update Great review on a fast-growing corner of CDG: disorders caused not by missing enzymes, but by faulty transport of sugars & ions into the ER/Golgi. Covers 13 transporter CDGs doi.org/10.1002/jimd...

Hyperglycinaemia is not one disease. This review proposes a modern framework for the glycine encephalopathies - separating classic NKH from cofactor defects, transporter disorders, secondary inhibition & phenocopies Essential reading for clinicians facing raised glycine doi.org/10.1002/jimd...

Hyperammonaemia ≠ always urea cycle. Crenshaw et al show a pattern of hypoaminoacidemia + pyroglutamic aciduria pointing to MALNUTRITION and ammonia resolved only after protein reintroduction, not restriction. Practice-changing. doi.org/10.1002/jmd2...

Late-onset OTC can hide outside the exons. This series shows a promoter variant c.-106C>A causing major enzyme loss & severe hyperammonaemia - diagnosis only possible with regulatory sequencing. A real lesson in looking beyond coding DNA. doi.org/10.1002/jmd2...

BIMDG 2026 is open! Join us in Oxford for an engaging programme, new ideas, and the chance to reconnect with colleagues. Pre-meeting: 29 June Symposium: 30 June–1 July Leonardo Royal Hotel, Oxford Abstract deadline: 15 April, 10:00 👉 www.bimdgconference.co.uk #BIMDG2026

Natural history matters, especially in lysosomal disease. Using Gaucher disease as a model, this review shows how deep phenotyping, modern genomics, biomarkers like lyso-Gb1, and multi-state disease modelling can turn registries into precision care and drug development. doi.org/10.1002/jimd...

Late-stage Leigh syndrome shows just how vulnerable the heart is to mitochondrial stress. In Ndufs4 KO mice, near-complete complex I loss forces a shift toward complex II respiration, yet cardiac energy substrates are profoundly depleted. 🔗 doi.org/10.1002/jimd... #LeighSyndrome

New JIMD Shortcast Cell trafficking disorders can mimic mitochondrial, lysosomal, or CDG because the defect lies within the cell. Merve Yoldaş Çelik discusses a 14-patient case series and why a mechanism-based diagnostic approach matters. Listen: open.spotify.com/episode/448f... #ThinkMetabolic

New in JIMD Reports 🧬 In HT-1, succinylacetone suppression outperforms NTBC blood levels as a marker of metabolic control. δ-ALA & AFP remain key; DBS has limits for tyrosine monitoring. 🔗 doi.org/10.1002/jmd2...

Elamipretide strengthens mitochondrial function in TFP models, without shifting total cardiolipin levels. bTFP-deficient mice ran ~2× farther, showed higher FAO-ETC enzyme activity, more ETC supercomplexes, and lower ROS, with a genotype-dependent response in patient fibroblasts.

From Molecule to Meaning: GM1 biomarkers Fluid markers track substrate burden + axonal injury (LysoSLs, gangliosides, glycans, NfL, CHITO, AST). Quant MRI/MRS + differential tractography provide the missing spatial context when atlases fail. doi.org/10.1002/jimd...

Allogeneic HSCT does not correct Sialidosis (Mucolipidosis Type I) despite early diagnosis and full donor engraftment of non-carrier leucocytes. doi.org/10.1002/jimd...

Manganese is essential… until it isn’t. 🚨 Dystonia 🧠 T1-bright basal ganglia 🩸 Polycythaemia 💉 EDTA chelation 🧪 Search for better, oral chelators Karin Tuschl, Suvasini Sharma and John Spencer unpack transporter defects, diagnosis, and chelation open.spotify.com/episode/1Wc5... #RareDisease #IMD

GA1 phenotype expanded: peripheral neuropathy is frequent and mostly subclinical in high-excretors, correlating with age and extrastriatal MRI changes, independent of movement disorder or acute striatal injury. doi.org/10.1002/jimd...

HPP muscle fibres show major mitochondrial respiratory impairment in Akp2GW−/− mice. Efzimfotase alfa restored maximal respiration to WT levels and fully rescued spare respiratory capacity. doi.org/10.1002/jmd2... #RareDisease #HPP #Mitochondria #EnzymeReplacementTherapy #OpenAccess

🎙️ New JIMD Shortcast Leukodystrophy caused by biallelic HMBS variants behaves very differently from acute intermittent porphyria and does not respond to liver-directed therapies. 🎧 Listen now: open.spotify.com/episode/5qWM... #RareDisease #Leukodystrophy #Porphyria #MetabolicNeurology #IMD

Cell trafficking disorders are genetically diverse, clinically convergent, and still easy to miss. This series highlights lactate elevation and dicarboxylic aciduria as recurring signals of ER-mitochondrial stress, pushing us toward mechanism-based diagnosis. doi.org/10.1002/jmd2... #CTD #IMD

In GSDIa, lactic acidosis can persist even after glucose correction, potentially reflecting mitochondrial dysfunction and driving multiorgan failure. Important signals for future mitochondrial surveillance and adjunct therapies in crisis care. doi.org/10.1002/jmd2... #GSDIa #Mitochondria

CoQ10 (25 mg/kg/day) reversed acute LV dysfunction in a 12-year-old with cblB (MMA) within 72h the first report of cardiomyopathy reversal in MMA using CoQ10 Supports secondary mitochondrial dysfunction & functional cardiac CoQ10 deficiency as a key mechanism. doi.org/10.1002/jmd2...

🎧 JIMD Podcast 2025: 50 episodes, 120+ territories, one very niche fandom crossover Here’s to 2026 and the next 30,000 plays, and remember, just search for "JIMD Podcasts" wherever you like to listen. #raredisease #podcast #inheritedmetabolicdisease #inbornerrorsofmetabolism #sciencecommunication

New JIMD Podcast I speak with Jean-Marie Saudubray and Manuel Schiff about six decades of progress in inherited metabolic diseases from early chromatography to genomics and the changing identity of the field. A rare, fascinating look at our history. open.spotify.com/episode/5ve2...