LIBRO + ANEXOS ERRORES INNATOS DEL METABOLISMO

Libro Blanco de las ACES Pediátricas 2024 34 ❚ CONTENT Knowledge Skills Attitude Appendix Physiology and Biochemistry Paediatric Metabolic Disease Nutrition Genetics Development Ethics Clinical Technical Management Academic Teaching Organisational Research Clinical Communication Education Support and leadership Academic/Research Managerial Inborn Errors Of Metabolism C.1 KNOWLEDGE C.1.1 Physiology and Biochemistry The normal physiology and biochemistry, including changes during childhood, of:  fluid and electrolyte balance.  acid - base regulation  intermediary metabolism including blood glucose and metabolic response to fasting, lactate, ammonia, aminoacids, organic acids and fatty acid metabolism.  oxidative phosphorylation and the respiratory chain  lipids and lipoproteins  cholesterol and other sterols  lysosome and peroxisome metabolism  purines and pyrimidines  porphyrins  calcium metabolism  bilirubin  trace metal metabolism  relevant aspects of brain metabolism including neurotransmitters. The role of the  blood brain barrier  Golgi and ER metabolism with a focus on protein glycosylation  enzyme biochemistry and tissue expression C.1.2 Paediatric Metabolic Disease  The pathological and biochemical changes, symptoms, investigations and management of metabolic disorders of the pathways and organelles listed in the appendix.  Specific Drug management. An understanding and experience of the drugs used for the treatment of metabolic disorders.  Transplantation. The metabolic indications for and long term follow up of liver transplantation haematopoietic stem cell transplantation renal transplantation  Principles of ex vivo and in vivo gene transfer and its relevance to IEM C.1.3 Nutrition  The normal nutritional requirements of protein, energy, vitamins and minerals for normal growth and development.  The principles of dietary therapy including the consequences of changes in the intake of nutrients. Consequences of under-nutrition and specific nutritional deficiencies.