ALG1-CDG

ALG1-CDG (also known as CDG-Ih or Congenital Disorder of Glycosylation Type 1h) is a rare genetic disorder that affects the body's ability to properly attach sugar molecules to proteins, a process known as glycosylation. This disorder is caused by mutations in the ALG1 gene.

Symptoms[edit | edit source]

The symptoms of ALG1-CDG can vary widely among affected individuals. Common symptoms include developmental delay, intellectual disability, seizures, and various physical abnormalities. Some individuals may also have liver disease, heart defects, and coagulation problems.

Genetics[edit | edit source]

ALG1-CDG is caused by mutations in the ALG1 gene. This gene provides instructions for making an enzyme that is involved in the process of glycosylation. Mutations in the ALG1 gene disrupt this process, leading to the symptoms of ALG1-CDG.

Diagnosis[edit | edit source]

Diagnosis of ALG1-CDG is typically based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized laboratory testing. Genetic testing can confirm the diagnosis.

Treatment[edit | edit source]

There is currently no cure for ALG1-CDG. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage seizures and other symptoms.

Prognosis[edit | edit source]

The prognosis for individuals with ALG1-CDG varies depending on the severity of symptoms. Some individuals may have a normal lifespan with appropriate management, while others may have life-threatening complications.