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What is uridine?
Uridine is one of the main building blocks of your genetic material, which can be divided into two molecules, DNA and RNA. (click here to know more about RNA). Uridine also plays an important role in glycosylation.
How can it help people living with CAD-CDG?
CAD-CDG patients have trouble producing uridine (and similar molecules). Hence, supplementing patients with uridine can help overcome this “production blockage” and ensure there is uridine available to play its role in glycosylation (As you can see in Figure 8). Uridine treatment was able to stop seizures and normalize the altered biochemical parameters in patients.
How can it help people living with PGM3-CDG?
PGM3-CDG patients have a defective production of a specific sugar called UDP-N-acetylgalactosamine (UDP-GlcNAc). PGM3-CDG patients present with a form of immunodeficiency (characterized by immune system dysfunction with increased infection propensity and allergies ). The UDP present in the sugar that is lacking in PGM3-CDG can be produced from uridine. A phase 1 clinical trial (ClinicalTrials.gov NCT02511041) was conducted which enrolled two patients. In this trial, GlcNAc in combination with uridine 5-monophosphate (UMP) was administered. The trial has already ended, but no results are available yet.
Publications in CDG are constantly growing. We have selected articles of special interest for you, see below. Not all are open access, thus if you wish to access the full information, please contact us at https://worldcdg.org/contact
