MOGS-congenital disorder of glycosylation

MOGS-congenital disorder of glycosylation (MOGS-CDG) is a type of congenital disorder affecting N-linked glycosylation, a process that helps form proteins in the body. This condition is marked by issues such as low muscle tone, distinct facial features, and developmental challenges. It is one of several disorders that impact the proper formation of glycoproteins, and its characteristic features include a prominent occiput, short palpebral fissures, long eyelashes, a broad nose, a high arched palate, and retrognathia.

People with this condition can experience generalized hypotonia (low muscle tone), craniofacial dysmorphism (unusual facial features), and may have hypoplastic genitalia. They can also have seizures, feeding difficulties, and breathing challenges such as hypoventilation. In addition, there may be severe hypogammaglobulinemia (low levels of antibodies) with generalized edema, along with an increased resistance to some viral infections, particularly from enveloped viruses.

MOGS-CDG is caused by loss-of-function mutations in the MOGS gene, which is located at 2p13.1. These genetic changes affect the normal process of glycosylation, leading to the various symptoms seen in the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.