LIBRO + ANEXOS ERRORES INNATOS DEL METABOLISMO

Errores Innatos del Metabolismo. Anexos ❚ 51 13 E Disorders of fatty acid oxidation and ketone body metabolism Demonstrates a sound knowledge and understanding of the following: 1. MCAD deficiency (MCADD): a. Newborn screening for MCADD – technique, role and counselling for a new diagnosis b. Dietary treatment of MCADD, including emergency regimens and appropriate fasting tolerances in infancy 2. Long-chain fatty acid oxidation disorders: a. The different presentations of Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency), Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and mitochondrial Trifunctional protein deficiency (TFP) deficiency b. The different presentations of disorders of carnitine transport – Carnitine palmitoyltransferase I (CPT1), Carnitine palmitoyltransferase 2 (CPT2), Carnitine- acylcarnitine translocase (CACT) and carnitine transporter deficiencies c. Dietary treatment for a child or young person with a long-chain fatty acid oxidation disorder, including monitoring d. Management and investigation of metabolic causes of rhabdomyolysis e. Management of intercurrent illness and emergency regimens in fatty acid oxidation disorders 3. Other disorders of fatty acid oxidation and ketone body metabolism: a. The different presentations and management of glutaric aciduria type 2 and Multiple Acyl-CoA-Dehydrogenase Deficiency (MADD) b. Drug treatment – riboflavin for some cases of MADD c. The different presentations and management of Short-chain acyl-CoA dehydrogenase (SCAD) and Short chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiencies d. The different presentations and management of ketolytic defects, eg Methionine adenosyl transferase (MAT) and Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiencies e. The different presentations and management of ketogenic defects (eg HMG CoA synthase and lyase deficiencies)