B4GALT1-congenital disorder of glycosylation

B4GALT1-congenital disorder of glycosylation (B4GALT1-CDG) is a very rare genetic condition that affects the process of glycosylation, where sugars are added to proteins. In the only reported case so far, this disorder was linked with an abnormally large head (macrocephaly) due to a Dandy-Walker malformation, as well as hydrocephaly, low muscle tone (hypotonia), muscle weakness (myopathy), and issues with blood clotting (coagulation anomalies). This condition is related to a mutation in the B4GALT1 gene, which is located on chromosome 9 at region q13. The mutation causes a deficiency in the beta-1,4-galactosyl transferase enzyme found in the Golgi apparatus. This enzyme is important for proper protein modification, and its deficiency leads to the various symptoms seen in this disorder.

People with this condition may show signs such as a large head due to the Dandy-Walker malformation, excess fluid in the brain (hydrocephaly), low muscle tone, muscle weakness, and problems with blood clotting.

B4GALT1-CDG is caused by a mutation in the B4GALT1 gene. The mutation affects the production of the beta-1,4-galactosyl transferase enzyme in the Golgi apparatus. This enzyme plays a role in the glycosylation process, and its deficiency disrupts normal protein modification.

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.