Sonam Gurung, Saketh Karamched, Dany Perocheau, Kiran K Seunarine, Tom Baldwin, Haya Al-Rashidi, Loukia Touramanidou, Claire Duff, Nour Elkhateeb, Karolina M Stepien, Reena Sharma, Andrew Morris, Thomas Hartley, Laura Crowther, Stephanie Grunewald, Maureen Cleary, Helen Mundy, Anupam Chakrapani, Spyros Batzios, James Davison, Emma Footitt, Karin Tuschl, Robin Lachmann, Elaine Murphy, Saikat Santra, Mari-Liis Uudelepp, Mildrid Yeo, Patrick F Finn, Alex Cavedon, Summar Siddiqui, Lisa Rice, Paolo G V Martini, Andrea Frassetto, Simon Heales, Philippa B Mills, Paul Gissen, Jonathan D Clayden, Christopher A Clark, Simon Eaton, Tammy L Kalber, Julien Baruteau
Argininosuccinate lyase (ASL) is integral to the urea cycle detoxifying neurotoxic ammonia and the nitric oxide (NO) biosynthesis cycle. Inherited ASL deficiency causes argininosuccinic aciduria (ASA), a rare disease with hyperammonemia and NO deficiency. Patients present with developmental delay, epilepsy and movement disorder, associated with NO-mediated downregulation of central catecholamine biosynthesis. A neurodegenerative phenotype has been proposed in ASA. To better characterise this neurodegenerative phenotype in ASA, we conducted a retrospective study in six paediatric and adult metabolic centres in the UK in 2022...
December 4, 2023: Journal of Inherited Metabolic Disease