Genetics Clinical Grand Rounds - Rare Disease Day Speaker Series 2022: Homocystinuria

Needs assessment:

Teaching about genetic metabolic disease is poor in medical school and postgraduate training. This interferes with patients receiving a diagnosis and access to potential effective therapies.

Learning Objectives:

1. Outline a metabolic differential diagnosis for homocysteinemia.

2. Review some important points about the diagnosis and management of cystathionine-beta-synthase deficiency.

3. Describe some real-life challenges facing patients with homocystinuria and their families.