Work

GM1 - gangliosidosis, type 1 in the practice of a clinical laboratory diagnostics doctor

Year: 2025

Type: article

Abstract: GM1- gangliosidosis is a rare hereditary disease from the group of lysosomal storage diseases, caused by a deficiency of the enzyme beta-galactosidase and leading to an abnormal accumulation of metabolic byproducts. GM1 - gangliosidosis is accompanied by a number of cytological disorders: multiple vacuoles in lymphocytes; weakly stained, unevenly distributed granules and cytoplasmic vacuolization in eosinophils. The article presents a clinical case of GM-1 - gangliosidosis type 1 in a 5-month-old child, which became possible to assume from the study of bone marrow (BM) and peripheral blood smears. Detection of vacuolated lymphocytes and abnormal eosinophils in the study of leukocyte formula may have important diagnostic value in patients with metabolic disorders.

Source: Archives of Pediatrics and Pediatric Surgery

DOI: 10.31146/2949-4664-apps-2-3-40-44

Authors: T. V. Konyukhova, A. I. Mandzhieva, E. V. Trukhina, L. B. Guruleva

Institutions: Pirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4407109973

FWCI:

Cites: 14

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Related to: 10