DPAGT1-congenital disorder of glycosylation

DPAGT1-congenital disorder of glycosylation (DPAGT1-CDG) is a rare genetic condition that affects a process called N-linked glycosylation, which is important for the proper function of many proteins in the body. This disorder can affect multiple systems and is noted for being associated with challenges in muscle tone and development. Individuals with this condition may experience symptoms such as low muscle tone, severe seizures that are difficult to control, developmental delays, and a smaller than normal head size (microcephaly). Other features sometimes observed include issues with movement (severe fetal hypokinesia), breathing difficulties such as apnea, and feeding problems. Some people may also have cataracts, joint contractures, and unique facial features such as esotropia, an arched palate, a small lower jaw (micrognathia), finger clinodactyly, and single flexion creases.

Common symptoms include low muscle tone (hypotonia), intractable seizures, developmental delays, microcephaly, and severe fetal hypokinesia. Other reported signs include breathing difficulties such as apnea and respiratory deficiency, cataracts, joint contractures, and several distinctive facial features like inward turning of the eyes (esotropia), arched palate, small jaw (micrognathia), finger clinodactyly, and the presence of single flexion creases. Feeding difficulties are also noted among affected individuals.

DPAGT1-CDG is caused by loss-of-function mutations in the DPAGT1 gene, which is located on chromosome 11q23.3. These genetic changes interfere with the enzyme’s role in the process of N-linked glycosylation, which is essential for the proper modification and function of proteins. This condition is inherited and is due to genetic mutations in DPAGT1.

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.