COG7-congenital disorder of glycosylation

COG7-congenital disorder of glycosylation (COG7-CDG) is a rare genetic condition that affects the body’s process of adding sugar molecules to proteins, a process known as glycosylation. This disorder has been observed in infants and is characterized by a range of severe symptoms, including unusual facial features (dysmorphism), problems with bone development (skeletal dysplasia), low muscle tone (hypotonia), enlarged liver and spleen (hepatosplenomegaly), and jaundice. In addition, people with this condition may experience heart problems (cardiac insufficiency), recurring infections, and seizures (epilepsy). The condition is very rare, and the cases described in the literature involved two infants, both of whom did not survive beyond the first three months of life.

The symptoms of COG7-CDG can include unusual facial features, bone and skeletal problems, low muscle tone, enlarged liver and spleen, jaundice, heart issues, recurring infections, and seizures.

COG7-CDG is caused by a mutation in the gene known as COG7, which is important for the proper function of the Golgi complex in cells. This mutation disrupts the normal process of adding sugar molecules to proteins, leading to the symptoms seen in the condition.

Information about treatment is currently limited for this condition.

The prognosis for COG7-CDG is very serious. The few cases reported in the literature involved infants who passed away within the first three months of life, indicating a poor outlook.

Information about research is currently limited for this condition.