COG8-congenital disorder of glycosylation

Congenital Disorders of Glycosylation (CDG) are a group of genetic conditions that affect the body's ability to create glycoproteins. In COG8-congenital disorder of glycosylation (also called CDG syndrome type IIh), the process of glycoprotein synthesis does not work as it should. This condition is marked by severe psychomotor retardation, which means that children or adults may experience delayed motor skills and learning difficulties. Additionally, there is failure to thrive, meaning that growth and weight gain may be much less than expected. People with this condition also show intolerance to wheat and dairy products. The challenges with digestion and nutrition add to the complexity of managing daily health. COG8-CDG is inherited in an autosomal recessive pattern, meaning that a child must inherit a change in the COG8 gene from both parents. Information about the full spectrum of symptoms, diagnostic procedures, and management is currently limited but focuses on these key features.

Common symptoms in people with COG8-congenital disorder of glycosylation include severe psychomotor delays, where reaching developmental milestones can be challenging. There is also failure to thrive, indicating difficulties with growth and weight gain, along with a noted intolerance to wheat and dairy products. These symptoms can impact learning, physical growth, and daily nutritional management.

This condition is caused by changes in the COG8 gene. Mutations in this gene interfere with the normal process of glycoprotein synthesis, which is essential for many functions in the body. The condition follows an autosomal recessive pattern, meaning that two copies of the abnormal gene, one from each parent, are needed for the condition to develop.

Information about treatment options is currently limited for this condition.

Information about prognosis and long-term outlook is currently limited for this condition.

Research into COG8-congenital disorder of glycosylation is ongoing. Scientists are studying the genetic and biochemical processes involved to better understand this rare condition. However, detailed research findings and future directions are currently limited.