MOGS-congenital disorder of glycosylation (MOGS-CDG) is an extremely rare inherited disorder caused by changes in the MOGSgene. This disorder is inherited in an autosomal recessive fashion, which means that the child receives one faulty copy of the MOGSgene from each parent.
MOGSgene helps the cells correctly process sugars that are attached to proteins, which is important for the body to function normally. When this gene is mutated, several bodily functions and organs are affected, including the brain.
Fewer than 30 patients with MOGS-CDG have been reported. Most of them have developmental delay, low muscle tone, seizures, movement problems, immune, liver, bone or heart issues. Life expectancy ranges from infancy to early adulthood, with the oldest reported patient being 19-years-old.
MOGS-CDG diagnosis is usually made with genetic testing, although special lab tests can be used to detect signatures consistent with this disease.
Unfortunately, there is no cure for MOGS-CDG and treatment focuses on managing symptoms and providing supportive care.
MOGS