ALG12-congenital disorder of glycosylation

ALG12-congenital disorder of glycosylation is a rare condition that affects how proteins are modified in the body. People with this condition may have distinct facial features such as a prominent forehead, large ears, and a thin upper lip. They may also experience low muscle tone, feeding difficulties, and delays in development. In addition, individuals with this condition can develop progressive microcephaly and frequent upper respiratory tract infections due to impaired immunity. Some may also have decreased levels of blood clotting factors, skeletal anomalies, and even heart issues or seizures. This condition is caused by loss of function mutations in the ALG12 gene, which plays a crucial role in the process of glycosylation.

Common signs and symptoms include distinctive facial features, generalized low muscle tone (hypotonia), feeding challenges, and moderate to severe developmental delays. Frequent upper respiratory infections can occur due to low immunoglobulin levels, and there may also be reduced blood clotting factors. In some cases, there are additional problems such as seizures, skeletal abnormalities, and heart issues.

The condition is caused by loss of function mutations in the ALG12 gene. These genetic changes disrupt the normal process of N-linked glycosylation, which is important for modifying proteins so they function properly 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.