Course description

Early diagnosis and management of newborns and infants with inherited metabolic disorders is essential to 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 diffi cult, 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 and a half 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 IEM.
• Awareness of emergency investigations and the use of specialised laboratory services.
• Awareness of metabolic causes of neonatal encephalopathy, cardiomyopathy, liver disease, hypoglycaemia, mitochondrial disorders and dysmorphic syndromes.
• Understand treatment and management options of critically ill newborns with inborn errors.
• Practical application of theory - participants are strongly encouraged to submit a case study from their own experience.

Croatian Paediatric Society

The Croatian Paediatric Society was founded in 1993 following a reorganisation of the Paediatric Section of the Croatian Medical Association. The aims of the Society are to:

• Provide optimal health service for paediatric population.
• Provide professional development and continuous education for its members.
• Promote high ethical standards.
• Represent the paediatric profession to the public, government and international paediatric associations.

The activities of the Society also include organising national and international education events, editing and publishing the Paediatria Croatica journal and supporting patient associations.
Under the umbrella of the Croatian Paediatric Society, this inborn errors in neonatology course is organised by the Neonatal and Paediatric Intensive Care Medicine and Metabolic sections. The Metabolic section is supported by the Reference Centre for Genetics and Metabolism within the Department of Paediatrics in the University Hospital Centre Zagreb. This institute provides newborn screening, diagnosis and management of children and families with inborn errors of metabolism and also education and research related to this fi eld of medicine.
The course will be held at the Centre for Advanced Academic Studies in Dubrovnik. Dubrovnik is a city of unique cultural and political history with world famous historical heritage and extraordinary natural beauty.