1 - Unidade de Doenças Metabólicas, Área de Pediatria Médica,, Centro de Referência de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de Lisboa Central, Lisboa, Portugal;
- Comunicação oral no 3rd South European Academy (SEA) Nutrition Education of IEM, 30 de setembro de 2021, online
Urea Cycle Disorders (UCDs) are a heterogeneous group of inborn errors of ammonia detoxification or arginine synthesis. The presentation is variable in severity and can be neonatal, with later onset or through newborn screening, usually with metabolic decompensations. The classical biochemical clue is hyperammonemia, though it is not present in all of UCDs. The treatment comprises: reduction of ammonia synthesis, removing or providing alternate routes for ammonia, removing inhibitors and providing urea cycle activators, supporting residual urea cycle function and in some cases liver transplant. The dietetic treatment is of outmost importance and its goals are metabolic stability, promoting good growth and development, adequate emergency regimen during decompensation, optimization of natural protein intake and ensuring a balanced diet. Clinical cases will be discussed and followed by an interactive Questions and Answers session.