LIBRO + ANEXOS ERRORES INNATOS DEL METABOLISMO

Libro Blanco de las ACES Pediátricas 2024 54 ❚ 16 I Neurometabolic and other disorders (may include a period of training in neurology) Demonstrates a sound knowledge and understanding of the following: 1. Neonatal seizures – examples of conditions and aspects of management to consider: a. Nonketotic hyperglycinaemia b. Pyridoxine- and pyridoxal phosphate-dependent epilepsies c. Disorders of serine metabolism d. Disorders of purine metabolism, including sulphite oxidase deficiency and molybdenum cofactor deficiency e. Disorders of metal metabolism, including Menkes disease and Wilson’s disease f. Drug treatments – indications and limitations of pyridoxine, pyridoxal phosphate, copper histidine injections, dextromethorphan, serine, zinc, penicillamine, trientine and cyclic PMP 2. Other neurometabolic disorders – examples of conditions and aspects of management to consider: a. Disorders of peroxisomal biogenesis b. Single enzyme disorders of peroxisomal metabolism, including X-linked adrenoleukodystrophy c. Disorders of purine metabolism, including Lesch–Nyhan syndrome d. Disorders of pyrimidine metabolism e. Disorders of neurotransmission f. Cerebral folate and creatine deficiency syndromes g. The different clinical presentations of, investigations for and management of the porphyrias, including the treatment of acute intermittent porphyria with haem arginate h. Drug treatments – indications for and limitations of drugs for neurometabolic disease (eg L-dopa, folinic acid, 5-hydroxytryptophan, dextromethorphan and haem arginate) i. Management of X-linked adrenoleukodystrophy, including an awareness of Lorenzo’s Oil and the indications for stem-cell transplantation 3. Other disorders – examples of conditions and aspects of management to consider: a. The different clinical presentations of and diagnostic protocols for the congenital disorders of glycosylation b. The presentation, investigation and management of trimethylaminuria