Libro blanco de las ACES Pediátricas 2024

Errores Innatos del Metabolismo. Anexos ❚ 235 C.1.4 Genetics  Mechanisms of inheritance and an understanding of molecular genetics including mitochondrial DNA  Understanding of principles of prenatal diagnosis C.1.5 Development  Normal intellectual and psychological development  Methods of assessment of DQ, IQ, behaviour and neuropsychological function C.1.6 Research • Principles of Good Clinical Practice (GCP) in Clinical Trials C.2. SKILLS C.2.1 Clinical skills 1. Assessment and investigation of metabolic causes of : • Acute encephalopathy • Neurological disease to include retardation, regression, seizures, movement disorders, myopathy, etc • Liver disease including acute liver failure • Hepatosplenomegaly • Cardiomyopathy • Opthalmological disease • Skeletal disorders • Skin disorders • Renal disorders including the Fanconi syndrome • Nutritional status and growth • Muscle disease 2. Emergency management and indications for and the use of: • assisted ventilation • peritoneal dialysis • haemodialysis, haemofiltration and related techniques • intracranial pressure monitoring 3. Genetic counselling and counselling prior to prenatal diagnosis C.2.2 Technical Skills 1. Interpretation of the investigations including understanding analytical, physiological and nutritional factors that influence the results. The use of investigations for long term monitoring of metabolic disorders. • Aminoacids • Ammonia • Organic acids (including interpretation of GC/MS data) • Intermediary metabolites: glucose, FFA, lactate, ketones • Acylcarnitines • Glycosaminoglycans • Lipids and lipoproteins • Peroxisomal enzymes and metabolites (VLCFA, pristanoate, phytanate,etc) • Purines and pyrimidines