Characterization of the SRD5A3-CDG Clinical Spectrum

We aimed to characterize the clinical spectrum of patients diagnosed with SRD5A3-CDG, a subtype congenital disorders glycosylation (CDG) due variants in steroid 5a-reductase type 3 (SRD5A3) gene. It presents multi-systemic involvement including neurological disability, dermatologic abnormalities, and ophthalmological defects. conducted cross-sectional study children (n=6, ages 4-16 years) confirmed diagnosis SRD5A3-CDG (c.57G>A, p.W19X). Families completed detailed medical history questionnaire, two quality life measures, an adaptive behavior scale. Prevalent features our cohort included visual impairment (6/6), developmental delay nystagmus (5/6), retinal dystrophy (4/6), hypotonia (3/6). The Vineland Adaptive Behavior Scales demonstrated deficits across all functional domains (Composite Mean 36.17 ± 26.88), although one child did not show significant deficits. QI-Disability Form mean total score 64.8 (±12.7), PedsQL-Family Impact Module 56.5 (±31.5). composite scores correlate levels disability captured by (Pearson Correlation range -0.63 +0.69, p>0.05 on subscales). Ultimately, despite genotypic homogeneity, there is notable variability functioning among affected that does age.