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February 10, 2026Ophthalmic Genetics

Clinical, biochemical and genetic characterization of an Egyptian patient with SRD5A3-congenital glycosylation disorder

Caroline Atef Tawfik Raghda Mohamed Hesham Zaitoun Sahar Sabry Mona Lofti Essawi Nagham M. Elbagoury

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Key Points

The aim is to characterize the clinical, biochemical, and genetic aspects of a patient with a novel SRD5A3 variant associated with congenital glycosylation disorder.
Detailed clinical assessment of the patient
Biochemical analysis to evaluate glycosylation
Genetic sequencing to identify SRD5A3 variant
Neurological examination for motor function
Identification of a novel variant in the SRD5A3 gene
Patient exhibits proximal limb-girdle weakness
Clinical signs include brisk reflexes and bilateral extensor plantar responses

Implication

Clinical report expands neurophenotypic spectrum of congenital glycosylation disorder, implying new insights into symptoms.

Discussion

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Cite This Study

Tawfik et al. (2026) studied this question.

synapsesocial.com/papers/698ebeb185a1ff6a930160d0 https://doi.org/10.1080/13816810.2026.2623106

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Keep reading

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