If you, or a member of your family, is affected by a congenital disorder of glycosylation, or CDG, you are most likely familiar with the terms, definitions, and physical impact upon the body. So, if you’d like, you can skip to the end.
A big part of my job at Patient Worthy is raising awareness about various rare diseases and disorders so that people actually understand the basics, but also so research dollars can become more readily available.
Hopefully, this moves the dial forward on finding new or better treatments, and sometimes even the final push towards a cure.
CDG is a tough one because it’s an umbrella term for a plethora of rare genetic metabolic disorders caused by defects in a Rube Goldberg-type of chemical process called GLYCOSYLATION.
I’m going to focus on one particular form of CDG called “congenital disorder of glycosylation type la.”
CDG-la causes problems in the body’s production of glycoproteins—which have carbohydrates attached to them. This defect is the result of a defect in the enzyme phosphomannomutase.
The deficiency of phosphomannomutase can cause a variety of symptoms and can affect multiple organ systems. The severity ranges from mild to life-altering disability, or death. Are you still with me?
Patients with this disorder have reported liver, kidney, and heart disease, immune system deficiencies, and dysmorphic features. Some patients exhibit cognitive impairment, stunted growth, and in certain individuals, cleft palate, and multiple organ involvement.
Treatments include enzyme replacement therapy and gene therapy, and researchers are making headway.
And speaking of headway, for those of you who really did skip to the last paragraph, there is exciting news on the CDG-la front.
San Francisco-based Glycomine, Inc. has raised $12,000,000 dollars to forward their research into enzyme replacement therapies to treat CDG-la.
Glycomine’s main focus is developing treatment options for patients who have zero therapies available. And for that, I say we all give them a standing ovation!
