Our community is in a relentless pursuit of therapies! 

Nutritional replacement therapies for CDG

 

Other Compounds

Vitamin B6 is being considered for the following CDG types:

  • PIGO-CDG (more information about this specific CDG type HERE)

About PIGO-CDG: Many proteins are anchored to cell surface membranes via a glycosylphosphatidylinositol (GPI) modification. PIGO is involved GPI biosynthesis in the endoplasmic reticulum (ER) and has a role in the transfer of phosphatidylethanolamine (PE) to the third mannose (Man3) of the GPI core. Seven patients from five families have been reported carrying variants in PIGO that cause an autosomal recessive syndrome characterized by dysmorphism, psychomotor disability, epilepsy and hyperphosphatasemia. 

How can you help our CDG community? Is easy! Share among your social media and other channels the information we make available within this section and website. This raises awareness, accelerates diagnosis, and secures better care and management for our CDG children and adults!

 

What is vitamin B6? 

Vitamin B6, or pyridoxine, is a water-soluble vitamin found naturally in many foods. Vitamin B6 is very important at supporting immune function and brain health. 

How can vitamin B6 help people living with PIGO-CDG? 

Supplementation with vitamin B6 has been shown to decrease seizures in a PIGO-CDG patient. This therapeutic effect is likely related to the stimulation of the production of a neurotransmitter (a molecule responsible to transfer information between our brain cells, the neurons) called GABA. Continue reading more at CDG Therapies: From Bench to Bedside.

 

Publications in CDG are constantly growing. We  have selected articles and other resources 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

Keep in mind, you are not alone. Though Congenital Disorders of Glycosylation (CDG) are categorized as “rare” there is an amazing community at your fingertips working day and night to improve the lives of many people living with CDG and their family members. We want you to know everything that is available about therapies in lay language, but we suggest you enter into it at your own pace and comfort level.

We are here to help
Should you need more details please do get in touch with our Team

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For further learning about CDG, move ahead to our community tailored sections across https://worldcdg.org/  

 

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Authors

Vanessa Ferreira and Sandra Brasil (CDG & Allies FCT, NOVA University, World CDG Organization and Portuguese Association for CDG).  Ines Santos, Tiago Martins, Madalena Raposo from Sci and Volunteer Program Nova School of Science and Technology 2021. Ana Sofia Rodrigues (content management, CDG & Allies FCT, NOVA University, World CDG Organization and Portuguese Association for CDG).

Disclaimer

The Site cannot and does not contain medical or health advice. The information is provided for general informational and educational purposes only and is not a substitute for professional advice.

Accordingly, before taking any actions based upon such information, we encourage you to consult with the appropriate professionals. We do not provide any kind of medical or health advice. The use or reliance of any information contained on this site is solely at your own risk.

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CDG
Congenital Disorders of Glycosylation

Page modified at Monday, July 11, 2022 - 16:52