SRD5A3-congenital disorder of glycosylation

SRD5A3-congenital disorder of glycosylation is a rare, non-X-linked congenital condition caused by a deficiency in steroid 5 alpha reductase type 3. People with this condition show a wide range of symptoms that can affect different parts of the body. The disorder typically presents with severe visual impairment and several eye issues such as optic nerve problems, coloboma, congenital cataract, and glaucoma. In addition, there may be challenges with intellectual development, movement, and skin, along with other systemic features. This variability means that the condition can affect individuals differently.

Common symptoms include severe visual impairment and various ocular anomalies such as underdeveloped or atrophied optic nerves, coloboma of the iris or optic nerve, congenital cataract, and glaucoma. Other signs may include intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and skin lesions that resemble ichthyosis. Some cases have also reported retinitis pigmentosa, curvature of the spine (kyphosis), congenital heart defects, extra hair growth (hypertrichosis), and abnormal blood clotting.

The cause of this disorder is a deficiency in the enzyme steroid 5 alpha reductase type 3, which is important for a process called glycosylation. This process helps the body attach sugar molecules to proteins, which is necessary for many bodily functions. The gene linked with this disorder is SRD5A3. Since the condition is congenital, it is present from birth.

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. Ongoing studies may provide further insights into the condition, its diagnosis, and management in the future.