LIBRO + ANEXOS ERRORES INNATOS DEL METABOLISMO

Errores Innatos del Metabolismo. Anexos ❚ 47 9 KC5.1 - 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). GPC 6 KC5.2 - 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). GPC 3 Undertakes the following procedures: •KC5.3 - skin biopsy •KC5.4 - lumbar puncture for neurotransmitter analysis GPC 3 KC6.1 - 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). GPC 2, 3, 5 KC7.1 - 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. KC 7.2 - Contributes to research projects and publications both in their training centre(s) and by collaboration with other centres. GPC 2, 3, 9 Illustrations A Disorders of amino acid metabolism Demonstrates a sound knowledge and understanding of the following: 1. Phenylketonuria – examples of aspects of management to consider: a. Newborn screening for phenylketonuria – technique, role and counselling for a new diagnosis b. Effect of hyperphenylalaninaemia on children, young people and foetuses, including management of phenylketonuria in pregnancy c. Dietary treatment of phenylketonuria, including monitoring and prevention of nutritional deficiencies d. Drug treatment – sapropterin dihydrochloride (roles and limitations) e. Testing for and treating the related defects of biopterin metabolism 2. Tyrosinaemia – examples of aspects of management to consider: a. Drug treatment – nitisinone (NTBC) b. Clinical presentations and the long-term complications of tyrosinaemia types 1, 2 and 3 c. Dietary treatment of tyrosinaemia types 1 and 2, including monitoring of a child on dietary treatment/NTBC d. Indications for liver transplantation in tyrosinaemia type 1