Resource Details

Genetic Metabolic Cases – Porphyria & Wilsons Disease

07/18/2023 8:46am
New England Regional Genetics Network (NERGN),Weitzman Institute

During this session, we will watch a metabolic geneticist as he completes “clinical rounds” online. We will hear 2-3 patients & parents (video recordings) who discuss what is it like to experience a metabolic disorder, either personally or in their child.

At the end of this session, participants will be able to:

Demonstrate what is involved in a visit to a genetic or metabolic clinic
Review the nature of some clinical cases that present to a metabolic disorder
Describe the challenges of a patient and/or family in living with a metabolic disorder

Presentation slides are available at:


Submit A Resource

Is a resource missing? Submit your resource here.