Generate QR code
Open Access
Subscription Access
Description of a clinical case of Krabbe disease.
https://doi.org/10.25557/2073-7998.2025.12.116-118
Abstract
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.
About the Authors
N. A. Gladkova
Saint Petersburg State Medical Diagnostic Center (Genetic medical center)
Россия
Россия
A. O. Vechkasova
Saint Petersburg State Medical Diagnostic Center (Genetic medical center)
Россия
Россия
D. M. Talova
Saint Petersburg State Medical Diagnostic Center (Genetic medical center)
Россия
Россия
References
1. Barczykowski A.L., Foss A.H., Duffner P.K., et al. Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases. American journal of medical genetics. Part A. 2012; 158A(11): 2835–2842. https://doi.org/10.1002/ajmg.a.35624
2. Wenger D., Escolar M.L., Luzi P., Rafi M.A. Krabbe disease (globoid cell leukodystrophy). In: Valle D, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, ed. The Online Metabolic and Molecular Bases of Inherited Diseases. New York: McGraw-Hill. 2013.
3. Tappino B., Biancheri, R., Mort M., et al. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Human mutation. 2010; 31(12): E1894–E1914. https://doi.org/10.1002/humu.21367
4. Rafi M.A., Luzi P., Zlotogora J., Wenger D.A. Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Human genetics. 1996; 97(3): 304–308. https:// doi.org/10.1007/BF02185759
5. Spiegel R., Bach G., Sury V., et al. A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans. Molecular genetics and metabolism. 2005; 84(2): 160–166. https://doi.org/10.1016/j.ymgme.2004.10.004
6. Bradbury A.M., Bongarzone E.R., Sands M.S. Krabbe disease: New hope for an old disease. Neuroscience letters. 2021; 752: 135841. https://doi.org/10.1016/j.neulet.2021.135841
7. Gorbunova V.N., Buchinskaia N.V., Vechkasova A.O., Kruglova V.S. Lizosomnyye bolezni nakopleniya. Sfingolipidozy – leykodistrofii [Lysosomal storage diseases. Sphingolipidoses – leukodystrophy]. Pediatr [Pediatrician (St. Petersburg)]. 2023;14(6):89-112. (In Russ.) doi: 10.17816/PED626382
8. Gelb M. H., Turecek F., Scott C. R., Chamoles N. A. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. Journal of inherited metabolic disease. 2006;29(2-3): 397–404. https://doi.org/10.1007/s10545-006-0265-4
9. Luzi P., Rafi M. A., Wenger D. A. Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. Human molecular genetics. 1995; 4(12): 2335–2338. https://doi.org/10.1093/hmg/4.12.2335
10. Nagornov I.O., Baydakova G.V., Zinchenko R.A., et al. Osobennosti spektra mutatsiy pri bolezni Krabbe v Rossiyskoy Federatsii [Krabbe’s Disease mutation spectrum in Russian Federation]. Meditsinskaya genetika [Medical Genetics]. 2021;20(5):41-47. (In Russ.)
Review
For citations:
Gladkova N.A., Vechkasova A.O., Talova D.M. Description of a clinical case of Krabbe disease. Medical Genetics. 2025;24(12):116-118. (In Russ.) https://doi.org/10.25557/2073-7998.2025.12.116-118
Views:
12
JATS XML
Email this article 