MPDU1-congenital disorder of glycosylation

MPDU1-congenital disorder of glycosylation, also known as CDG syndrome type If, is part of a group of inherited conditions called congenital disorders of glycosylation. These disorders are autosomal recessive, which means that a person needs to inherit two copies of the altered gene to be affected. The condition affects glycoprotein synthesis, a process needed to make proteins that play important roles in the body. People with this condition often face challenges with development and growth. Common signs include delays in motor and cognitive skills, seizures, and difficulties with thriving as infants or young children. In addition, there may be unusual skin and eye features. Because glycoproteins are important for many functions in the body, problems in their production can lead to a range of symptoms.

Common symptoms of CDG syndrome type If include psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. These signs may be noticeable in early childhood and can impact development in various ways.

This condition is caused by changes in the MPDU1 gene, which is vital for proper glycoprotein synthesis. It is inherited in an autosomal recessive manner. This means that both parents must carry a copy of the altered gene for their child to be affected. The changes in the gene lead to disruptions in the normal production of glycoproteins, contributing to the symptoms seen in this 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.