ALG6-congenital disorder of glycosylation 1C

ALG6-congenital disorder of glycosylation 1C is a type of congenital disorder that affects the process of glycosylation, which is how sugars attach to proteins. This condition can lead to a variety of symptoms affecting neurological, visual, and other systems in the body. People with this condition may experience feeding problems and mild-to-moderate neurological issues such as poor head control, hypotonia (low muscle tone), developmental delays, ataxia (difficulty with balance and coordination), and strabismus (misaligned eyes). In some cases, seizures and retinal degeneration have also been reported. A smaller number of cases may have intestinal problems such as protein-losing enteropathy and liver involvement.

Common symptoms include feeding problems, hypotonia, poor head control, and delays in development. Many people also experience neurological symptoms like ataxia and seizures, which can range from brief febrile convulsions to more severe epilepsy. Additional signs may include strabismus and retinal degeneration, and some may have intestinal and liver issues.

This condition is caused by loss of function mutations in the gene ALG6, which is involved in the glycosylation process. Changes in this gene disrupt normal protein formation by affecting how sugars are added to proteins in the body.

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.