LIBRO + ANEXOS ERRORES INNATOS DEL METABOLISMO

Libro Blanco de las ACES Pediátricas 2024 36 ❚ Neurotransmitter and biogenic amine metabolites in CSF and other fluids Vitamin, mineral and other nutrient analyses including copper and caeruloplasmin • Cholesterol and other sterols • Porphyrins, bilirubin and related compounds 2. Indications and interpretation of: • fasting test for disorders of intermediary metabolism • glucagon test tests for co-factor responsive disorders (such as B12 test for MMA, BH4 for hyperphenylalaninemia ) • loading tests (protein, amino acid…) • newborn screening methods • enzymatic studies: specific and non specific assays 3. Biopsies -indications for, planning and interpretation of: • skin biopsy (for fibroblast culture) • liver biopsy • muscle biopsy (needle and open) • and other biopsies 4. Experience of the use and interpretation of molecular genetic techniques including NGS, WES etc…. 5. Practical aspects of dietary management: • evaluation of nutritional intake and requirements • low protein diets and those with controlled aminoacid intake (e.g. MSUD, PKU including the management in pregnancy) • low and very low fat diets • galactose and fructose free diets • dietary management of glycogen storage disease • emergency /metabolic crisis regimens • electrolyte replacement regimens (for treatment of Fanconi syndrome) 6. Interpretation of psychological and neuropsychometric testing C.2.3 Management skills • Understanding of management skills required for development and use of resources in the metabolic unit, including budget control, contracting, strategic planning and writing a business plan. • Experience of day-to-day running of a paediatric metabolic service including management of admission policies within the medical directorate system. Importance of and involvement in clinical auditstructure and function of local, regional and national NHS organisation C.2.4 Academic skills • Critical evaluation of clinical results from literature review and audit • Manuscript preparation • Oral presentation skills C.2.5 Teaching skills • Formal and informal teaching skills at undergraduate and postgraduate level • Development of core teaching material to enable participation in teaching programmes on a regular basis • Organization of a postgraduate teaching programme C.2.6 Organizational skills • Routine departmental tasks including duty rotas, teaching programmes and postgraduate meetings