ALG2-congenital disorder of glycosylation

ALG2-congenital disorder of glycosylation is a rare genetic condition that affects the process of glycosylation, which is important for normal cell function. This condition is a form of congenital disorders of N-linked glycosylation and is characterized by a range of symptoms including eye abnormalities like iris coloboma and cataract, as well as neurological problems like infantile spasms and developmental delay. Abnormal blood clotting factors have also been observed in people with this condition. The disorder is caused by loss-of-function mutations in the ALG2 gene, which is located on chromosome 9q31.1. It is inherited in an autosomal recessive pattern, which means that a child needs to receive one mutated gene from each parent to develop the condition.

Common signs and symptoms of ALG2-congenital disorder of glycosylation include eye problems such as iris coloboma and cataract, as well as infantile spasms. Other reported symptoms include developmental delays and abnormal coagulation factors. These findings help guide doctors in suspecting this rare disorder.

The condition is caused by mutations in the ALG2 gene. These mutations lead to a loss of function in the gene's product, which disrupts the normal process of glycosylation. The disorder is inherited in an autosomal recessive manner, meaning that both parents must carry a mutation in the ALG2 gene for a child to be affected.

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.