Libro blanco de las ACES Pediátricas 2024

Errores Innatos del Metabolismo. Anexos ❚ 255 J Genetics and generic skills (may include a period of training within clinical genetics) Demonstrates a sound knowledge and understanding of the following: 1. Genetic testing and counselling – examples of aspects to consider: a. Understanding and ability to explain simply the principles of autosomal recessive, dominant, X-linked and mitochondrial DNA inheritance patterns b. Understanding and ability to explain simply the principles of DNA mutation analysis and sequencing c. Understanding and ability to explain simply the different ways of performing antenatal or prenatal / preimplantation / presymptomatic genetic diagnosis and understanding of the cultural differences in attitudes towards these d. Familiarity with clinical situations in which molecular testing may be an appropriate first-line investigation and the selection of appropriate samples for testing (eg genomic DNA vs cDNA) e. Understanding issues regarding informed consent for DNA testing and whole exome or genome testing f. Understand the available modalities of genetic testing (single gene/variant, gene panel, exome, genome) 2. Maintaining standards in inherited metabolic disorders – examples of aspects to consider: a. Knowledge of external quality assurance schemes for laboratories b. Critical appraisal of published literature, including a working knowledge of medical statistics c. How to use online resources, such as Online Mendelian Inheritance in Man (OMIM) to obtain up-to-date information on inherited metabolic disorders d. Participation in and keeping up to date with multicentre research studies of inherited metabolic disorders K Technical skills Conducts: 1. Metabolic investigations – examples to be familiar with: a. Acylcarnitines b. Urine organic acids, including Gas chromatography/mass spectrometry (GC/MS) data c. Quantitative amino acid profiles d. Enzyme assays e. Urinary glycosaminoglycan and oligosaccharide analysis f. Urine purine and pyrimidine data g. Lipid profiles/lipoprotein electrophoresis h. Plasma very long-chain fatty acids (and other investigations for peroxisomal disease) i. Molecular genetic analyses 2. Dynamic tests – examples to be familiar with: a. Allopurinol loading test b. Penicillamine challenge c. Responsiveness tests to pyridoxine/pyridoxal phosphate and vitamin B12 17