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Our community is in a relentless pursuit of therapies! 

Nutritional replacement therapies for CDG

 

Other Compounds

Sodium Butyrate is being considered for the following CDG types:

  • PIGM-CDG (more information about this specific CDG type HERE, HERE and HERE)

About PIGM-CDG: A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy (more information HERE). 

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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 sodium butyrate? 

Our genetic information is stored in genes. That information is used to make other products inside our cells, such as proteins. The transfer of information from genes to proteins is called gene expression. Sodium butyrate is a compound with many functions, including induction or repression of gene expression.

How can sodium butyrate help people living with PIGM-CDG? 

PIGM-CDG happens because there is a defect in the transfer of information from the PIGM gene to make proteins. Sodium butyrate can help restore this process and increase PIGM gene expression. Sodium butyrate supplementation was tested in  patient cells (in the lab) and in one patient who regained some capabilities and became seizure-free.  

 

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

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

Ensure that you are up to date, and join our mailing list:

 Subscribe our World CDG magazine

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 - 16:53