Journal of Inherited Metabolic Disease

Liver transplant can dramatically change outcomes in Maple Syrup Urine Disease but it is far from infallible, Shao Ching Tu et al report their group's experience with a patient decompensating even after successful transplantation. Read on: https://lnkd.in/ept6M_v8 Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease Shao Ching Tu, Marium Khan, Kate W., Sakil Kulkarni, Liz Toolan, MS, RD, LD, and Dorothy Grange

There's a great Metabolic Mystery surrounding our new 'Educational Image' - A 42-year-old woman was investigated for exercise intolerance. She already had a medical follow-up because of a hypokinetic dilated cardiomyopathy identified at the age of 28 years and a chronic kidney disease, both secondary to a malignant hypertension episode. She complained about muscle pain and dyspnea on exertion, and was limited to a walking range of 200 m. She also experienced postexercise muscle pain. On clinical examination, no strength deficit was noted. She had mild amyotrophy of lower limbs and a symmetrical lipomatosis of her proximal upper limbs. Share your thoughts and then click for the answer: https://lnkd.in/eMg75SXR Leslie Bercu, patrizia Amati-Bonneau, Valérie Desquiret-Dumas, Vincent Procaccio, and françois maillot

Interesting new publication from the main journal looking at the use of siRNA based therapies in Hyperoxaluria, discussing why some may not work as well as we hoped they would. Human glyoxylate metabolism revisited: New insights pointing to multi-organ involvement with implications for siRNA-based therapies in primary hyperoxaluria Ronald Wanders, jaap groothoff, Lisa Deesker, Eduardo Salido, Sander Garrelfs https://lnkd.in/eX2w4UXH

We need better biomarkers for identifying mitochondrial disease as lactate has been shown to have both low sensitivity and specificity despite often being seen as indicative or reassuring. We welcome this work from Fernandez et al exploring the use of growth differentiation factor 15 as a biomarker in mtDNA related disorders. The clinical utility in hospital-wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA-related disorders Andrea Cortes Fernandez, Jane Estrella, Devin Oglesbee, Austin Larson, Johan Van Hove https://lnkd.in/e9G6Tqmt #mitodisease #mitochondria

Te esperamos al 🧬 *II Congreso Iberoamericano de Errores Innatos del Metabolismo* 🧬. Organizado por la red de errores innatos del metabolismo Iberoamericana 💠 *4 de diciembre* para aprender sobre Errores Innatos del Metabolismo, este día será dedicado a pacientes, familias y cuidadores. 🩺 *5 de Diciembre* actualiza tus conocimientos sobre los errores innatos del metabolismo, dedicado a profesionales de salud 📌 *Regístrate en el siguiente Link* ✅https://lnkd.in/d3jmZBQ8 #ErroresInnatosDelMetabolismo #Iberoamaericano #Congreso #Medicina #Investigación #Avances

Potential therapeutic uses of L-citrulline beyond genetic urea cycle disorders Regular followers of our social channels will know that they are managed by a general paediatrician with an interest and not a proper metabolist, so I must confess I’m rather tickled to see this new article from Marshall Summar, M.D. detailing possible applications for L-citrulline in sickle cell disease, pulmonary hypertension, post transplant veno-occlusive disease, broncho-pulmonary dysplasia and even asthma. Keep to know more about the little Amino Acid that could? Then read on 👉 https://lnkd.in/edQKiffG #sicklecell #asthma #BPD

Lovely new review article from John E. Walker of the MRC Mitochondrial Biology Unit detailing 5 decades of work to understand the pathophysiology of Citrin metabolism and how this leads to the varied picture observed in Citrin Deficiency. Read 👉🏻 https://lnkd.in/epsv4vg4 Commissioned for the imminent special issue Ureagenesis Defects: Novel Models and Treatment Options My path to citrin deficiency John E. Walker Citrin Foundation #citrindeficiency

RNA based therapies offer some of the most exciting and imminent prospects fo patients currently living with inherited metabolic disorders. In our new podcast, Dr Lourdes Ruiz Desviat gives a brief over view of the broad variety of approaches taken and the progress being made from bench to bedside in Urea Cycle Disorder patients. Listen on Spotify: https://lnkd.in/gjbv4fXc or search for JIMD Podcasts wherever you like to listen. Exploring RNA therapeutics for urea cycle disorders Eva Richard, Ainhoa Martinez Pizarro, Lourdes R. Desviat #RNA #podcast #inheritedmetabolicdisease

New in the main journal, Rahimi et al explore neuroimaging changes in patients with mild Wilson disease. Imaging changes can be seen before neuropsychiatric symptoms; myelin or white matter in general seems vulnerable to low-level copper toxicity, with white matter volume loss showing promise as a marker for assessing brain involvement in early WD stages. Brain morphometry in hepatic Wilson disease patients Parya Rahimi, Stanislav Mareček, Radan Brůha, Dezortova Monika, Petr Sojka, Milan Hájek, Marta Skowrońska, Łukasz Smoliński, Petr Urbánek, Tomasz Litwin, Petr Dušek https://lnkd.in/g2NirhAv #wilsondisease #neuroimaging

There's a lot of chatter about how to accelerate trials and access to new therapies in rare disease but there is always a balance to be struck around developing good data to demonstrate meaningful benefit to patients and value to healthcare systems. In this new publication, Wiesinger et al aim to provide evidence advocating fast access to innovative individual treatment trials (ITTs) by implementing a risk–benefit model tailored for mucopolysaccharidoses. They present a novel decision analysis framework (DAF) to support this process. Read more 👉 https://lnkd.in/e9A5aU4Y Development of a novel tool for individual treatment trials in mucopolysaccharidosis Anna-Maria Wiesinger, Brian Bigger, Roberto Giugliani, Christina Lampe, Maurizio Scarpa, Tobias Moser, Christoph Kampmann, Georg Zimmermann, and Florian Lagler, Prof. Dr. med.