| 08:30-17:00 | APS Seminar | ||
| 17:00-17:30 | Satellite Symposium Gesellschaftssaal Reformulating paediatric medicines to remove unwanted and harmful excipients with the friendly support of  | ||
| 18:00-19:00 | Satellite Symposium Gesellschaftssaal Hyperargininemia – An alien among urea cycle defects Chair: Julia Hennermann, Mainz (GER) Loargys – First approved therapy targeting hyperargininemia How to use Loargys and first experience with the friendly support of  | 17:30-19:00 | Satellite Symposium Bankettsaal Update Sphingolipidosen Sphingolipidosen: What’s good to know? Update vom WORLD-Symposium 2024 Follow-Up ASMD und Olipudase alfa with the friendly support of  |
Wine, finger food and poster viewing Festsaal, Kongress Palais |
| 08:30-08:40 | Welcome and conference outline |
| 08:40-10:00 | What makes the human brain a special organ? Chair: Barbara Plecko, Graz (AT), Johannes Häberle, Zurich (CH) Cellular and molecular mechanisms of the blood brain barrier Inborn errors of metabolism, neurotoxicity and age-dependent brain vulnerability The complex pathophysiology of lysosomal storage disorders |
| 10:30-12:30 | Odysseus´ changed decisions – quicker ways to diagnose IEM Chair: Gwendolyn Gramer, Hamburg (GER), Peter Freisinger, Reutlingen (GER) Efficacy of newborn screening for the prevention of disease manifestation in neurometabolic disorders Neurometabolic Disorders – a signs and symptoms approach Do we still need biomarkers in the diagnostic work-up of children with unclear neurologic disease? Dominant or recessive? Functional variant interpretation in genetic diagnostics |
| 13:30-14:30 | Update on Leukodystrophies Chair: Steffie Dreha-Kulaczewski, Göttingen (GER), Felix Distelmaier, Düsseldorf (GER) Metabolic and inflammatory aspects in Leukodystrophies The change in the diagnostic and therapeutic paradigm with a focus on X-ALD and MLD |
| 14:30-15:20 | Free communications I Chair: Anibh Das, Hannover (GER), Julien Park, Münster (GER) FC 01-01 Improving the diagnostic performance of testing for Metachromatic Leukodystrophy: a new LC-MS/MS method including normalization of urinary sulfatide concentration to sphingomyelin FC 01-02 First newborns to receive gene therapy after prospective newborn screening for metachromatic leukodystrophy FC 01-03 The clinical, neuroimaging and metabolic footprint of the neurodevelopmental disorder caused by monoallelic HK1 variants – a differential diagnosis for GLUT1 deficiency syndrome and mitochondrial disorders FC 01-04 Severity prediction model for nonketotic hyperglycinemia: validation approach |
| 15:45-17:00 | Session of the Young Metabolic Society Chair: Julia Neugebauer, Berlin (GER), Ali Tunç Tuncel, Heidelberg (GER) GA I-Update First experiences with enzyme substitution in PKU Metabolic Epilepsies |
| 17:00-18:30 | APS general assembly |
Haupthalle Kongress Palais |
| 08:30-10:00 | Free Communications II Chair: Anna Baghdasaryan, Graz (AT), Matthias Gautschi, Bern (CH) FC 02-01 Impact of liver transplantation on health outcomes in urea cycle disorders FC 02-02 Clinical and genomic testing outcomes in children with severe or recurrent hypoglycaemia at The Royal Children’s Hospital, Melbourne, 2016-2021 FC 02-03 Genetic landscape of paediatric acute liver failure of indeterminate origin FC 02-04 Repurposing SGLT2 inhibitors: treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin FC 02-05 Added diagnostic value of (long-read) genome sequencing and clinical implementation within the Modellvoraben §64e FC 02-06 Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype–phenotype correlation FC 02-07 Niemann-Pick type B disease (ASMD): a series of four cases and first results from enzyme replacement therapy (ERT) with olipudase alfa FC 02-08 ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae |
| 10:30-12:30 | Therapeutic Innovation Pipeline in Neurometabolic Disorders Chair: Ute Spiekerkötter, Freiburg (GER), Thomas Opladen, Heidelberg (GER) Drug repurposing in mitochondrial disorders – and beyond The blood-brain barrier and enzyme replacement therapies – devices versus cargo Approaches to studying innovative therapies for ultrarare diseases Genetic therapies for neurometabolic disorders |
| 12:30-12:40 | Prizes and Farewell |
c/o Geschäftsstelle der Deutschen Gesellschaft für Kinder- und Jugendmedizin e.v. (DGKJ)
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