Libro blanco de las ACES Pediátricas 2024

Errores Innatos del Metabolismo. Anexos ❚ 253 15 G Disorders of lipid metabolism Demonstrates a sound knowledge and understanding of the following: 1. Familial hypercholesterolaemia (FH) – examples of aspects of management to consider: a. Diagnostic criteria and clinical signs of FH b. Drug treatment – indications, side effects and monitoring of cholesterol- lowering medications c. Dietary recommendations for FH d. Assessment of cardiovascular risk in patients with hypercholesterolaemia e. Treatments available for homozygous FH, including referral for liver transplantation 2. Rare disorders of lipid metabolism – examples of aspects of management to consider: a. Clinical presentation and dietary treatment of lipoprotein lipase deficiency b. Disorders of cholesterol synthesis, including Smith–Lemli–Opitz syndrome and the use of cholesterol supplementation c. Clinical presentation and treatments of abetalipoproteinaemia and hypobetalipoproteinaemia H Mitochondrial disorders (may include a period of training in neurology) Demonstrates a sound knowledge and understanding of the following: 1. Mitochondrial disease – aspects of management to consider: a. The differing clinical presentations and long-term complications of Leigh syndrome, Mitochondrial encephalomyopathy, lactic acidosis and stroke- like episodes (MELAS), Myoclonic epilepsy with ragged red fibres (MERRF), Neuropathy, ataxia and retinitis pigmentosa (NARP), Leber’s hereditary optic neuropathy (LHON), Pearson syndrome, Kearns–Sayre syndrome, Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) syndrome, Barth syndrome, ethylmalonic encephalopathy b. The different clinical presentations of disorders associated with mitochondrial DNA depletion, including Alpers’ syndrome c. The different clinical presentations and long-term complications of pyruvate dehydrogenase deficiency and pyruvate carboxylase deficiency d. Drug treatment – indications for and limitations of ubiquinone, biotin, riboflavin, thiamine and sodium dichloroacetate e. Advising appropriate investigations for an undiagnosed child with primary lactic acidosis, including diagnostic tissue biopsies f. Understanding of effective palliative care for degenerative diseases