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

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