ALG11-congenital disorder of glycosylation

ALG11-congenital disorder of glycosylation is a rare genetic condition that affects the body’s ability to properly add sugars to proteins, a process known as glycosylation. This disorder is part of a group of conditions called congenital disorders of N-linked glycosylation, which can affect various systems in the body. People with this condition may have facial differences such as a high forehead, low posterior hairline, small head size (microcephaly), and eye alignment issues (strabismus). Other problems that can occur include low muscle tone (hypotonia), challenges with growth and development, persistent vomiting, and gastrointestinal issues like gastric bleeding. In some cases, additional features such as unusual fat pad distribution, inverted nipples, and fluctuations in body temperature are observed.

Common symptoms include facial features such as microcephaly, a high forehead, a low posterior hairline, and strabismus. Other signs can include low muscle tone (hypotonia), failure to thrive, persistent vomiting, gastric bleeding, intractable seizures, and developmental delays. Additional features that may be seen in some people include anomalies in fat pads, inverted nipples, and body temperature changes.

This condition is caused by mutations in the ALG11 gene, which is located on chromosome 13q14.3. Changes in this gene disrupt the normal process of glycosylation, leading to a range of symptoms observed in people with the disorder.

Information about treatment options and management approaches is currently limited for this condition.

Information about the outlook and quality of life considerations is currently limited for this condition.

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