Health-related Quality of Life Among Patients with Phosphomannomutase 2 Congenital Disorder of Glycosylation in Georgia

Abstract

Background: Phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG) is the most common form of CDG, a group of rare, multisystemic genetic conditions with diverse clinical presentations. While the disease burden is profound, data on health-related quality of life (HRQL) in affected individuals remain scarce. Objectives: This study aimed to assess HRQL in children with PMM2-CDG in Georgia using the Patient-Reported Outcomes Measurement Information System (PROMIS). Methods: Ten children aged 5–13 years with genetically confirmed PMM2-CDG were enrolled. Caregivers completed the PROMIS questionnaires across five domains: anxiety, depression, fatigue, pain interference, and physical function. Results: Children with PMM2-CDG showed notable impairments in health-related quality of life, particularly in physical function, which was significantly below the norm (M = 24.1). Fatigue levels were modestly elevated (M = 53.53), suggesting increased tiredness. Conclusions: These findings reveal the significant impact of PMM2-CDG on HRQL in children, highlighting the need for integrated care approaches and further longitudinal studies to guide therapeutic priorities and policy planning.