Sterol and bile acid synthesis disorders: why are patients still missed, and how can biomarkers, newborn screening and new treatments change that? Silvia and Rodrigo are joined by Andrea DeBarber and Robert Steiner for the latest Research Round-Up. 🎧 podcasts.apple.com/gb/podcast/j...

MCADD ≠ always hypoketotic hypoglycaemia. This JIMD Reports case describes neonatal ketoacidosis as the presenting feature of MCAD deficiency, an important reminder that inherited metabolic disorders don’t always follow the textbook. doi.org/10.1002/jmd2... #MCADD #Neonatology #RareDisease #MedEd

Koga et al report that Baat-deficient mice reproduce the elevated serum 7-HOCA seen in a patient with BAAT deficiency, suggesting the disorder involves broader disruption of bile acid homeostasis than impaired conjugation alone. doi.org/10.1002/jimd...

How reliable is the classic PKU mouse model? Cao et al. review behavioural phenotyping of the Pah(enu2) mouse—highlighting reproducible findings, inconsistent results and priorities for future preclinical PKU research. doi.org/10.1002/jimd... #PKU #JIMD #RareDisease

New JIMD Podcast: can metabolic nutrition move beyond biochemical control towards lifelong health? Júlio César Rocha, Anne Daly & Anita MacDonald discuss protein substitutes, new therapies, point-of-care testing and AI. open.spotify.com/episode/5gAB... or wherever you like to listen

Adult neurometabolic medicine is growing rapidly. In this Swedish cohort of 59 adults: 🧬 32 different disorders 💊 65% received disease-specific treatment 🏥 84% remained under specialist follow-up 🏡 27% were fully independent doi.org/10.1002/jmd2...

Metabolic Mysteries Neonatal seizures then, years later, seizures, behavioural change, tremor, myoclonus and unusual eye movements. The diagnosis seems to be pointing in one direction. But is it? Mrinmayee Takle & Kuntal Sen help us unravel the case. podcasts.apple.com/gb/podcast/j...

New in #JIMDReports: 5-year follow-up of two siblings with Morquio A syndrome who started ERT at very different ages. Earlier treatment may benefit severe cervical manifestations, but skeletal disease remains a challenge. Choi et al. doi.org/10.1002/jmd2... #MorquioA #MPS

Neonatal acute liver failure due to citrin deficiency (NALFCD) is the focus of this new #JIMDReports case from Hoi-Yin Chan et al doi.org/10.1002/jmd2... #NewbornScreening #CitrinDeficiency #MetabolicMedicine #RareDisease

Can classical #Homocystinuria affect the aorta? This case describes the first reported thoracic aortic dissection in a patient with classical homocystinuria and asks whether selected patients may benefit from aortic surveillance. doi.org/10.1002/jmd2... #RareDisease #Cardiology #MetabolicMedicine

How does hepatic GSD IX evolve with age? In 89 UK patients, disease burden often eased over time but IXγ2 followed a more severe course with greater lifelong treatment needs. The study also reports 49 novel alleles. Halligan, Sanders, Selvanathan et al. doi.org/10.1002/jimd...

Are we still missing inherited metabolic disease or starting to diagnose people who may never become unwell? Nina Gold, Jessica Gold and Mirjam Langeveld join the #JIMDPodcast to debate late diagnosis, genomic newborn screening and the burden of uncertain risk. open.spotify.com/episode/7cMB...

PKU may be one of the oldest recognised inherited metabolic disorders, but research continues to move rapidly. Silvia and Rodrigo are joined by Dr Cary Harding and Dr Wendy Smith to discuss new therapies, updated guidelines and the future of PKU care. on.soundcloud.com/4lNAxogkrYJc... #PKU

Nine new cases of NAXD deficiency expand the recognised phenotype, including neurological, cardiac and prenatal presentations. Four individuals treated with niacin survived subsequent illnesses. doi.org/10.1002/jimd... #RareDisease #MitochondrialDisease #NAXD

Can mitochondrial dysfunction drive targetable immune activation? A new #JIMDReports case describes the first reported use of JAK inhibition in PNPT1-related COXPD13, with normalization of the type I interferon signature and associated clinical and biochemical improvements. doi.org/10.1002/jmd2...

Can the same treatment help one patient but harm another? In our latest #JIMDPodcast, Dr Andrés Klein discusses rapamycin, modifier genes and why pharmacogenomics may shape the future of precision medicine in Niemann-Pick C... and perhaps many other rare diseases. 🎧 soundcloud.com/user-1090061...

🕵️ A 2-year-old with acute episodes of dystonia. Symmetrical basal ganglia abnormalities on MRI. What would you investigate next? Dr Luisa Averdunk works through the latest Metabolic Mystery. Can you solve the case before the reveal? podcasts.apple.com/gb/podcast/j...

Are organic acidemias also disorders of the immune system? 🧬 A new #JIMD review explores cytopenias, recurrent infections, adaptive immune dysfunction and hyperinflammation, and asks whether immune outcomes should be included in future therapeutic trials. doi.org/10.1002/jimd...

A remarkable case of pregnancy in lysinuric protein intolerance, complicated by immune dysregulation, severe thrombocytopenia and hyperammonaemia. A great example of multidisciplinary metabolic, obstetric and haematology care leading to a successful outcome. doi.org/10.1002/jmd2...

Respiratory disease in #MPSI may involve more than upper airway obstruction. This study combines functional lung imaging, physiology and histology to demonstrate evidence of intrinsic pulmonary disease in a mouse model. #MPS #RareDisease #LSD #JIMD doi.org/10.1002/jimd...

Female Fabry disease remains difficult to predict. Can combining α-galactosidase A activity, lysoGb3 and X-chromosome inactivation improve phenotype classification? This study suggests a tri-parametric approach may provide a clearer picture. #FabryDisease #RareDisease #LSD doi.org/10.1002/jimd...

How closely do biochemical markers reflect clinical outcomes in cblC disease? In this JIMD Shortcast, first author Arty Selvanathan discusses their latest study and what it means for understanding disease severity and patient monitoring. 🎧 Listen now. open.spotify.com/episode/3P9U...

How long is the diagnostic journey for ASMD? Argentine series of 19 pts found an average diagnostic delay of >7 years, with hepatosplenomegaly present in every patient and frequent pulmonary and haematological involvement. think broadly when assessing multisystem disease. doi.org/10.1002/jmd2...

How much of metabolic control in MMA comes from diet, and how much comes from the microbiome? Could more intact protein help? What does metronidazole really do to the gut ecosystem? And can microbiome-informed therapies improve outcomes? New episode with Engin Köse open.spotify.com/episode/7nTJ...

Can genetics help predict who will benefit from rapamycin in Niemann-Pick disease type C? Using an NPC-like yeast model, Szenfeld et al. identified candidate modifier genes that influenced treatment response, supporting a future precision medicine approach. doi.org/10.1002/jimd...

How often is classical homocystinuria still missed? In this UK cohort, delayed cases waited a median of 7 years for diagnosis. Lens subluxation was the most common missed early sign, followed by thrombosis. Earlier recognition means fewer preventable complications. doi.org/10.1002/jmd2...

Can switching from sodium phenylbutyrate improve long-term ammonia control in UCDs? In a Japanese Phase 3 study, glycerol phenylbutyrate achieved lower 24-hour ammonia exposure and maintained good metabolic control over 12 months, with a favourable safety profile. doi.org/10.1002/jmd2... #UCD

Our latest Shortcast features Mark Wijnen reporting the use of teriparatide to treat bone disease in 2 patients with in MPS Type IVB. Listen on Spotify: open.spotify.com/episode/6z3Q... or wherever you get your podcasts #MPS #Podcast #raredisease

Updated international guidelines for remethylation disorders are now available Highlights include new diagnostic algorithms, recognition of newly described disorders, expanded newborn screening experience, and updated recommendations for hydroxocobalamin and betaine therapy doi.org/10.1002/jimd...

A CRISPR-generated human oligodendrocyte model with complete GALC deficiency reproduces key features of Krabbe disease Psychosine levels were reduced towards WT using the CGT inhibitor BMN-S202, supporting its use as a platform for therapy development. doi.org/10.1002/jimd.70212