About SLC39A8-CDG: is a rare and severe inherited autosomal recessive condition which affects many organ systems simultaneously. SLC39A8-CDG primarily affects the musculoskeletal and nervous systems.
About TMEM165-CDG: is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. The disease is caused by mutations in the gene TMEM165 (4q12) (continue reading here).
About SLC35A2-CDG: is an inherited condition that causes neurological problems and other abnormalities. This disorder's signs and symptoms and their severity vary among affected individuals.
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What is galactose?
Galactose is a sugar that is used by our body cells to get energy. It is also important for the glycosylation process.
How can galactose supplementation help people living with PGM1-CDG?
The PGM1 protein is important for the production and also modifications made to two sugars: glucose and galactose. The multi-system involvement in human PGM1-CDG is shown here.
Galactose supplementation has been used for people living with PGM1-CDG with improvement of liver and coagulation impairment, as well as improvement of hypoglycemia (low blood sugar) and muscle impairment. You can learn more at CDG Therapies: From Bench to Bedside.
The company Avalo Therapeutics is developing an ultra-pure, oral, crystalline formulation of D-galactose that serves as a substrate replacement therapy (CERC-801). A phase 1 clinical trial to know more about the safety of galactose supplementation was conducted by Avalo Therapeutics. This clinical trial showed CERC-801 to be safe and well tolerated, with no reports of serious adverse events. For more information about this phase 1 trial click here.
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
How can galactose supplementation help people living with SLC39A8-CDG?
The SLC39A8 protein is a transporter of ions such as manganese (Mn), zinc (Zn) and cadmium (Cd). Some proteins, such as the ones involved in adding galactose to the sugar trees, need these ions to work properly. In SLC39A8-CDG, this transporter is not properly working, and so there is a lack of ions and galactose inside our cells.
Galactose supplementation in combination with uridine was able to improve the glycosylation profile in a patient with a severe phenotype. However, galactose supplementation does not solve the low levels of ions (navigate across https://worldcdg.org/ to See the uridine section).
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
How can galactose supplementation help people living with TMEM165-CDG?
The TMEM165 protein is responsible for transporting manganese (Mn) inside a cell compartment called Golgi apparatus, in which some steps of the glycosylation process take place. As for SLC39A8-CDG, the lack of manganese leads to defects in the proteins responsible for adding galactose to the sugar trees.
Galactose supplementation was studied in cell models, in patient cells and in two patients with normal Mn2+ levels.The galactose treatment was able to recover the normal N-glycosylation profile and biochemical parameters in these two patients.
Improvement of coagulation parameters with oral galactose has been observed in TMEM165-CDG.
Galactose supplementation improves hypogonadotropic hypogonadism and low blood sugar in TMEM165-CDG. Antisense therapy showed promise in TMEM165-CDG. TMEM165 antisense morpholino oligonucleotide therapy resulted in skipping of the pseudo-exon and restored expression of the normal protein in fibroblasts of individuals living with TMEM165-CDG.
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
How can galactose supplementation help people living with SLC35A2-CDG?
The SLC35A2 protein is responsible for transporting galactose inside the Golgi apparatus, one of the cell compartments. By giving external galactose to cells of people living with SLC35A2-CDG, we increase the total amount of galactose available and push the transporter (the SLC35A2 protein) to work. Galactose supplementation was responsible for clinical improvement, particularly, seizure control, in people living with SLC35A2-CDG. You can learn about The role of the SLC35A2 protein in transporting the galactose sugar outside the cell to the Golgi apparatus at CDG Therapies: From Bench to Bedside.
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
