Course of the Recordati Rare Diseases Foundation

This course is aimed at clinicians with a basic knowledge of inborn errors of neurotransmitter, pterin and folate metabolisms who are working a metabolic or child neurology clinic. Both adult and childhood disease will be covered so it is suitable for practitioners in both areas. This course is intended to be interactive; it brings together a vast array of know-how, experts and resources to improve participants understanding of IEM in order to promote best practice in hospitals and healthcare systems.

Participants will be encouraged to provide abstracts for case presentations.


Learn about the clinical presentation of inborn errors of neurotransmitter, BH4 and folate metabolism.

Understanding of biochemical pathways related to the disorders.

Awareness of the critical issues and pitfalls in the diagnostic work-up and treatment of these diseases.

Awareness of the benefits and limitations of classical treatment concepts and understanding of novel and future therapeutic strategies.

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