LIBRO + ANEXOS ERRORES INNATOS DEL METABOLISMO

Libro Blanco de las ACES Pediátricas 2024 50 ❚ 12 D Disorders of carbohydrate metabolism Demonstrates a sound knowledge and understanding of the following: 1. Glycogen storage diseases (GSDs) – examples of aspects of management to consider: a. Different presentations of GSD 1a and 1b, including the management of neutropenia and inflammatory bowel disease b. Different presentations of GSD III, IV, VI and IX c. Different presentations of muscle GSDs, including GSD V, VII and IX d. Monitoring of a child or young person on dietary treatment for GSD, including the use of glucose–lactate profiles and continuous glucose monitoring e. Dietary treatment of GSDs associated with fasting intolerance, including the use of corn starch and enteral feedings f. Management of intercurrent illness and emergency regimens g. Indications for liver transplantation in GSD 2. Galactosaemia – examples of aspects of management to consider: a. Clinical presentation of classical galactosaemia and the differential diagnosis of neonatal liver failure b. Long-term complications, including learning difficulties and referral for educational support c. Recognition and management of ovarian failure in females d. Dietary treatment of galactosaemia and monitoring e. Molecular and enzymatic investigations of galactosaemia, including Duarte variants 3. Other rare carbohydrate metabolism disorders – examples of conditions to consider: a. Fructosaemia b. Fructose 1,6-bisphosphatase deficiency c. Glucose transporter deficiency (GLUT1), including the use of the ketogenic diet d. Fanconi–Bickel syndrome