Year: 2026
Type: article
Study design: Case Report
Abstract: Glycogen storage disease type Ib is a rare inherited metabolic disorder characterized by a combination of severe metabolic abnormalities and immune dysfunction. This article presents a clinical case of a pediatric patient with glycogen storage disease type Ib, complicated by chronic neutropenia, recurrent infectious and inflammatory skin lesions, and signs of immune dysregulation. A comprehensive clinical, laboratory, instrumental, and immunological assessment was performed, including evaluation of neutrophil functional activity, lymphocyte immunophenotyping, mitochondrial activity analysis, and assessment of the NF-κB signaling pathway. The findings demonstrate the systemic nature of immune alterations in GSD Ib and highlight the clinical relevance of extended immunological monitoring in affected patients.
Source: Advanced targets in Biomedicine
Institution: Sechenov University
Language: English
Subfield: Biochemistry
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W7220719246