LIBRO + ANEXOS ERRORES INNATOS DEL METABOLISMO

Libro Blanco de las ACES Pediátricas 2024 48 ❚ 10 3. Homocystinuria – examples of aspects of management to consider: a. Clinical presentation and long-term complications of classical homocystinuria b. Clinical presentation of remethylation defects c. Causes of combined homocystinuria and methylmalonic aciduria d. Drug treatment – betaine and pyridoxine e. Dietary treatment of homocystinuria, including monitoring of a child or young person on dietary or medical treatment f. Management and prevention of thromboembolic disease, including pregnancy g. Pyridoxine responsiveness test h. Newborn screening for homocystinuria – technique, role and counselling for a new diagnosis 4. Maple syrup urine disease (MSUD) – examples of aspects of management to consider: a. Clinical presentations b. Newborn screening – technique, role and counselling for a new diagnosis c. Dietary treatment, including monitoring of a child or young person on dietary treatment d. Management of acute MSUD, including extracorporeal therapy e. Management of acute illness in a child and young person with MSUD, including the emergency protocol f. Indications for liver transplantation 5. Other aminoacidopathies to consider: a. Hyperornithinaemia with gyrate atrophy, including dietary treatment and complications b. Alkaptonuria, including the role of NTB B Disorders of organic acid metabolism Demonstrates a sound knowledge and understanding of the following: 1. Branched-chain organic acidurias – examples of aspects of management to consider: a. Propionic acidaemia – clinical presentation b. Methylmalonic acidaemia – clinical presentation c. Isovaleric acidaemia – clinical presentation and newborn screening d. Dietary management of branched-chain organic acidurias, including monitoring e. Management of intercurrent illness, emergency regimen and decompensation f. Ensuring adequate nutrition for children with organic acidaemias, including indications for enteral feeding g. Rarer organic acidurias (eg malonic aciduria) h. Drug treatment – L-carnitine, carglumic acid, glycine and vitamin B12 preparations i. Indications for and arguments for and against organ transplantation in organic acidurias j. Different managements of biotin/vitamin-responsive organic acidurias, including the vitamin B12 responsiveness test