Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.

ABSTRACT:

Background

Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood. Therefore, this study aims to elucidate this diagnostic journey by examining families' and professionals' experiences.

Results and discussion

A questionnaire was designed for CDG families and professionals, garnering 160 and 35 responses, respectively. Analysis revealed the lack of seizures as a distinctive feature between PMM2-CDG (11.2%) with Other CDG (57.7%) at symptom onset. Hypotonia and developmental disability were prevalent symptoms across all studied CDG. Feeding problems were identified as an early onset symptom in PMM2-CDG (Cramer's V (V) = 0.30, False Discovery R

SUBMITTER: Granjo P 

PROVIDER: S-EPMC11529564 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature