The course will provide an introduction to the common presentations, diagnosis and treatment of Inherited Metabolic Diseases (IMDs). Topics will include hypoglycaemia, hyperammonaemia, rhabdomyolysis, cardiomyopathy, liver disease, dysmorphism, seizures and neurodegeneration. Diagnostic strategies, the interpretation of metabolic investigations, drug and dietary treatments will all be covered by a combination of lectures and workshops, for which delegates will be divided into small groups.

Venue: Radisson Blu, Dwarka, New Delhi, India

Dates: 6-9 January (Monday to Thursday)

Local organisers: Sunita Bijarnia & IC Verma

Faculty will include at least 2 clinicians & 2 biochemists from the SSIEM Education & Training Committee

Course description: The course will provide an introduction to the common presentations, diagnosis and treatment of Inherited Metabolic Diseases (IMDs). Topics will include hypoglycaemia, hyperammonaemia, rhabdomyolysis, cardiomyopathy, liver disease, dysmorphism, seizures and neurodegeneration. Diagnostic strategies, the interpretation of metabolic investigations, drug and dietary treatments will all be covered by a combination of lectures and workshops, for which delegates will be divided into small groups.

Target audience: The course is suitable for Paediatricians and adult physicians (including neurologists, endocrinologists, hepatologists & geneticists) who have had some exposure to IMDs but wish to acquire further knowledge. It is also suitable for biochemists who undertake relevant investigations. Numbers are limited to 50-60 clinicians & biochemists from India & surrounding countries.

Provisional program:

Day 1:

Lectures on hypoglycaemia, glycogen storage diseases, fatty acid oxidation disorders & organic acidaemias
Workshops on hypoglycaemia, rhabdomyolysis, cardiomyopathy, organic acid & acylcarnitine analysis

Day 2:

Lectures on urea cycle disorders & amino acidopathies
Workshops on hyperammonaemia, acute encephalopathy, amino acid analysis

Day 3:

Lectures on Dysmorphism, Lysosomal, Peroxisomal & Mitochondrial disorders & CDGs
Workshops on Neurodegeneration

Day 4:

Lectures on Neurotransmitters, Metal disorders, Exome sequencing
Workshops on seizures & liver disease
Quiz

Applications: August & September 2019. Instructions will be given on the SSIEM Website. Successful applicants will be contacted in October & asked to register.

Registration fee: 100 Euros. This includes the full scientific program, lunches & accommodation for 4 nights.