LIBRO + ANEXOS ERRORES INNATOS DEL METABOLISMO

Libro Blanco de las ACES Pediátricas 2024 58 ❚ 20 Key Capabilities Assessment / Supervised Learning Event suggestions Paediatric Mini Clinical Evaluation (ePaed Mini-CEX) Paediatric Case-based Discussion (ePaed CbD) Directly Observed Procedure / Assessment of Performance (DOP/AoP) Acute Care Assessment Tool (ACAT) Discussion of Correspondence (DOC) Clinical Leadership Assessment Skills (LEADER) Handover Assessment Tool (HAT) Paediatric Multi Source Feedback (ePaed MSF) Paediatric Carers for Children Feedback (Paed CCF) Other Takes responsibility for the holistic investigation and management of a child and young person with the following conditions: • Phenylketonuria (see Illustration A1 for details • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, including the counselling of a new family from newborn screening and the management of intercurrent illnesses (see Illustration E1 for details)     Understands the available modalities of genetic testing and uses this knowledge to select and consent for the appropriate genetic test for a child or young person with IMD (see illustration J1 for examples).     Understands the ACMG guidelines for variant classification and uses this knowledge to participate in genomic medicine MDTs and discuss the implications of genetic results with families (see illustration J1 for examples)     Prescribes a range of specialised drugs for the treatment of inherited disorders of metabolism (eg enzyme replacement therapies, ammonia- scavenging medications and other examples given in this syllabus).     Utilises specialised metabolic investigations, where indicated, with appropriate interpretation and application to the diagnosis of a child or young person with a suspected inherited metabolic disorder (see Illustration K for details).    Undertakes the following procedures: • skin biopsy • lumbar puncture for neurotransmitter analysis     Contributes to effective and up-to-date local and regional multidisciplinary team (MDT) management of children and young people with inherited disorders of metabolism (see Illustration J2 for details).     Understands the role of clinical trials, natural history studies and registries in the management and development of new treatments for IMD and participates in MDT discussions about study recruitment. Contributes to research projects and publications both in their training centre(s) and by collaboration with other centres.