DDOST-CDG (CDG-Ir)

DDOST-CDG (CDG-Ir)

DDOST-CDG (CDG-Ir), also known as Congenital Disorder of Glycosylation type Ir, is a rare genetic disorder that affects the process of glycosylation, which is the attachment of sugars to proteins and lipids. This process is crucial for the proper function of many proteins and lipids in the body. DDOST-CDG is part of a larger group of disorders known as Congenital Disorders of Glycosylation (CDG).

Genetics

DDOST-CDG is caused by mutations in the DDOST gene, which encodes the enzyme dolichyl-diphosphooligosaccharide—protein glycosyltransferase subunit 1. This enzyme is essential for the initial steps of N-linked glycosylation, a type of glycosylation that occurs in the endoplasmic reticulum. Mutations in the DDOST gene lead to defective glycosylation, resulting in a wide range of clinical symptoms.

Clinical Features

The clinical presentation of DDOST-CDG can vary widely among affected individuals. Common symptoms include:

• Developmental delay
• Intellectual disability
• Hypotonia
• Seizures
• Coagulopathy
• Liver dysfunction
• Failure to thrive

Diagnosis

Diagnosis of DDOST-CDG typically involves a combination of clinical evaluation, biochemical testing, and genetic testing. Biochemical tests may show abnormal glycosylation patterns in serum glycoproteins. Genetic testing can confirm the diagnosis by identifying mutations in the DDOST gene.

Treatment

There is currently no cure for DDOST-CDG. Treatment is primarily supportive and symptomatic, focusing on managing the various symptoms and complications associated with the disorder. This may include physical therapy, occupational therapy, and medications to control seizures and other symptoms.

Prognosis

The prognosis for individuals with DDOST-CDG varies depending on the severity of the symptoms and the specific mutations involved. Early diagnosis and supportive care can improve the quality of life for affected individuals.

Related Pages

• Congenital Disorders of Glycosylation
• Glycosylation
• Genetic disorder
• Endoplasmic reticulum
• Developmental delay
• Intellectual disability
• Hypotonia
• Seizures
• Coagulopathy
• Liver dysfunction
• Failure to thrive