Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
Brief Summary:
Background:
- Proteins, fats, and other molecules are the body s building blocks. Many of these molecules must have sugars, or chains of sugars, attached to work properly. People with congenital disorders of glycosylation (CDGs) cannot attach these sugars or sugar chains properly. A child or adult with a CDG can have symptoms in different parts of the body, including brain, nerves, muscles, liver, and immune system. Researchers want to learn more about these diseases to understand better what is causing the problems.
Objective:
- To learn more about CDGs.
Eligibility:
- People age 1-80 with CDG or suspected to have a CDG.
Design: