SRD5A3-CDG

SRD5A3-CDG is a rare congenital disorder of glycosylation. It is characterized by severe visual impairment, intellectual disability, and other physical and neurological symptoms. The disorder is caused by mutations in the SRD5A3 gene.

Symptoms and Signs

The symptoms of SRD5A3-CDG can vary widely among affected individuals. Common symptoms include:

• Severe visual impairment, including congenital eye abnormalities and retinal dystrophy
• Intellectual disability
• Delayed motor development
• Microcephaly (small head size)
• Ichthyosis (dry, scaly skin)
• Cerebellar hypoplasia (underdevelopment of the cerebellum)

Causes

SRD5A3-CDG is caused by mutations in the SRD5A3 gene. This gene provides instructions for making an enzyme that is involved in the process of glycosylation, which is the addition of sugar molecules to proteins. Mutations in the SRD5A3 gene disrupt this process, leading to the symptoms of SRD5A3-CDG.

Diagnosis

Diagnosis of SRD5A3-CDG is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized tests. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for SRD5A3-CDG. Treatment is symptomatic and supportive, and may include physical therapy, special education, and other medical, social, and/or vocational services.

Prognosis

The prognosis for individuals with SRD5A3-CDG varies depending on the severity of symptoms. Some individuals may have a normal lifespan with appropriate management, while others may have a shortened lifespan due to complications of the disorder.

See Also

• Congenital Disorders of Glycosylation
• SRD5A3 gene
• Glycosylation

References

SRD5A3-CDG Resources
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