LIBRO + ANEXOS ERRORES INNATOS DEL METABOLISMO

Errores Innatos del Metabolismo. Anexos ❚ 49 11 2. Glutaric aciduria – examples of aspects of management to consider: a. Clinical presentation of glutaric aciduria type 1 b. Newborn screening for glutaric aciduria type 1 c. Dietary treatment and monitoring of a child or young person with glutaric aciduria type 1 d. Treatment of dystonia in glutaric aciduria type 1 (including the role of deep brain stimulation) e. Management of acute illness in a child or young person with glutaric aciduria type 1, including the emergency regimen f. Different presentations of L- and D-2-hydroxyglutaric aciduria C Hyperammonaemia and urea cycle disorders Demonstrates a sound knowledge and understanding of the following: 1. Acute hyperammonaemia – examples of aspects of management to consider: a. Clinical presentation and recognition of hyperammonaemia b. Methods of measuring blood ammonia and the effects of sampling and processing c. Causes of hyperammonaemia, including secondary causes d. Management of acute hyperammonaemia, including extracorporeal treatment 2. Urea cycle disorders – examples of aspects of management to consider: a. The different presentations of N-Acetyl glutamate synthase (NAGS), Carbamoyl phosphate synthetase (CPS), Ornithine transcarbamylase (OTC), argininosuccinate synthetase (ASS), Argininosuccinate lyase (ASL) and arginase deficiencies b. The different managements and presentations of transport defects, including citrin deficiency, lysinuric protein intolerance and Hyperornithinemia- hyperammonemia-homocitrullinuria (HHH) c. Dietary management of urea cycle disorders, including monitoring d. Emergency regimens for and management of intercurrent illness/ decompensations e. Ensuring adequate nutrition for children with urea cycle disorders, including indications for enteral feeding f. Drug treatment – carglumic acid, sodium benzoate, sodium/ glycerol phenylbutyrate, citrulline and L-arginine g. Indications for organ transplantation in urea cycle disorders