Early diagnosis and management of newborns and infants with inherited metabolic disorders is essential for the affected children’s outcome. However, the quick and correct recognition of specific inherited metabolic disease in neonates is a challenge for neonatologists. It may be difficult, especially in critically ill neonates, to distinguish between the primary genetically encoded metabolic disorder and the secondary metabolic disturbances resulting in similar clinical picture..
This practical course is run by an experienced team of paediatricians, neonatologists, molecular biologists and biochemists specialised in metabolic medicine, who already contributed substantially to the understanding of metabolic disorders in childhood. The two days course includes lectures and seminars for 35 participants. The course is aimed at paediatricians with about 2-3 years clinical experience in the neonatology field.
LEARNING OBJECTIVES
Appreciation of clinical situations leading to the suspicion of an inborn error of metabolism
Awareness of emergency investigations and the use of specialised laboratory services
Awareness of metabolic causes of neonatal encephalopathy, cardiomyopathy, liver disease, hypoglycaemia, lactacidosis and dysmorphic syndromes
Understand treatment and management options of critically ill newborns with inborn errors/li>
Understanding and optimal diagnostic use of neonatal screening and next generation sequencing
Practical application of theory – participants are strongly encouraged to submit a case study from their own experience
