medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2025.12.116-118medgen-3357Research ArticleКРАТКИЕ СООБЩЕНИЯBRIEF REPORTОписание клинического случая болезни Краббе.Description of a clinical case of Krabbe disease.ГладковаН. А.GladkovaN. A.ВечкасоваА. О.VechkasovaA. O.vechkasova.nastia@mail.ruТаловаД. М.TalovaD. M.Санкт-Петербургское Государственное бюджетное учреждение здравоохранения «Диагностический центр (медико-генетический)» 194044, г. Санкт-Петербург, ул. Тобольская, д.5РоссияSaint Petersburg State Medical Diagnostic Center (Genetic medical center)Russian Federation2025310120262412116118Copyright © Гладкова Н.А., Вечкасова А.О., Талова Д.М., 20262026Гладкова Н.А., Вечкасова А.О., Талова Д.М.Gladkova N.A., Vechkasova A.O., Talova D.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/3357

Представлено описание клинического случая пациента с болезнью Краббе. Данный диагноз был подтвержден путём определения уровня ферментативной активности галактоцереброзидазы и молекулярно-генетического исследования – поиск мутаций в гене GALC.

This article presents a description of a clinical case of a patient with Krabbe disease. This diagnosis was confirmed by determining the level of enzymatic activity of galactocerebrosidase and molecular genetic testing – searching for mutations in the GALC gene.

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The authors declare that there are no conflicts of interest present.