LIBRO + ANEXOS ERRORES INNATOS DEL METABOLISMO

Libro Blanco de las ACES Pediátricas 2024 52 ❚ 14 F Lysosomal storage disorders Demonstrates a sound knowledge and understanding of the following: 1. Lysosomal storage disorders (LSDs) for which there is an approved therapy – examples of aspects of management to consider: a. The different clinical presentations and treatments for the mucopolysaccharidoses (I, II, IV and VI) b. The different clinical presentations and treatments for Fabry disease, Gaucher disease (I and III), Pompe disease, Danon disease and lysosomal acid lipase deficiency c. The different clinical presentations and treatments for Niemann–Pick disease type C d. Drug treatments – laronidase, idursulfase, elosulfase alfa, galsulfase, agalsidase alfa/beta, imiglucerase, velaglucerase, alglucosidase alfa, sebelipase alfa, miglustat and migalastat e. Monitoring of children and young people on enzyme replacement or substrate reduction, including awareness of agreed protocols for treatment monitoring and continuation f. Management of drug-associated reactions and side effects of approved treatments for LSDs g. Understanding of the indications for choice and complications of central venous catheters for enzyme replacement h. Understanding of anaesthetic and surgical considerations for children with MPS disorders i. Indications for stem-cell transplantation for some LSDs 2. LSDs for which there is no approved therapy – examples of aspects of management to consider: a. The different clinical presentations of Krabbe disease, metachromatic leukodystrophy and multiple sulfatase deficiency b. The different clinical presentations of Niemann–Pick diseases (types A and B) and the mucopolysaccharidoses (III, VII and IX) c. The different clinical presentations of GM1 and GM2 gangliosidoses, mannosidosis and other oligosaccharidosis d. Familiarity with the current state of clinical trials of novel therapies for currently untreatable LSDs e. Indications for stem-cell transplantation for some otherwise untreatable LSDs f. Understanding of effective palliative care for degenerative diseases