Issue: 2026, Vol. 31, No. 3

M. A. Ananyeva, N. A. Shilova, N. V. Kharlamova, E. V. Protsenko

GLYCOGEN STORAGE DISEASE IN NEONATOLOGICAL PRACTICE. A CLINICAL CASE

Keywords

glycogen storage disease, clinical case, newborn

Abstarct

Glycogen storage diseases are a general group of hereditary disorders of carbohydrate metabolism associated with genetically determined defects in enzymes involved in glycogen synthesis or breakdown, leading to its pathological accumulation or severe deficiency in target organs, primarily the heart, liver, and muscles. A clinical case of glycogen storage disease with early manifestation in the neonatal period is presented, demonstrating the complex diagnostic search for the pathology against the background of non-specific general clinical symptoms and a concomitant severe generalized intrauterine infection, which significantly exacerbates the child’s condition. The introduction of neonatal screening for various forms of glycogen storage diseases may contribute to timely diagnosis and the initiation of early therapy, including enzyme replacement therapy if necessary, to achieve better outcomes.

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• Quid est Veritas_3_31_2026-55-62