ALG9-congenital disorder of glycosylation

ALG9-congenital disorder of glycosylation is a condition that affects the way sugars attach to proteins in the body. This disorder belongs to a group known as congenital disorders of glycosylation, which can impact many parts of the body. People with this condition may experience a range of issues from growth and developmental delays to changes in body features. The disorder is noted for its serious impact on brain development, muscle tone, and can include challenges like drug-resistant epilepsy and an enlarged liver. Additional effects noted include distinct facial features and sometimes complications in other organs.

Common symptoms include progressive microcephaly (small head size), low muscle tone (hypotonia), developmental delays, and drug-resistant infantile epilepsy. People with this condition may also have an enlarged liver (hepatomegaly). Other features that can be seen are failure to thrive, fluid around the heart (pericardial effusion), kidney cysts, skeletal dysplasia, and specific facial features such as frontal bossing, wide-set eyes (hypertelorism), a depressed nasal bridge, low-set ears, a large mouth, and hydrops fetalis.

This condition is caused by loss-of-function mutations in the ALG9 gene, which is located on chromosome 11q23. Changes in this gene interfere with the normal process of glycosylation, where sugars are added to proteins. This disruption can lead to the various symptoms observed in the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.