Genetics Clinical Grand Rounds - Rare Disease Day Speaker Series 2022: Homocystinuria
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.
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.
VMP Genetics, LLCMark Korson, MDDirector of Physicisan Support, and Director of Education
HCU Network AmericaDanae BartkeExecutive director and co-founder