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A Review of Krabbe Disease

Saleena Resheed, Aswathy Dharmaraj

Abstract


Krabbe disease, also known as globoid cell leukodystrophy, is a rare and inherited neurodegenerative disorder caused by a deficiency of the enzyme galactocerebrosidase.


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References


Wenger, D. A., et al. (2017). Krabbe disease: A review of the literature. Journal of Pediatrics, 191, 266-274.e2.

Escolar, M. L., et al. (2019). Hematopoietic stem cell transplantation for Krabbe disease. Neurology, 92(12), 552-561.

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Orsini, J. J., et al. (2020). Newborn screening for Krabbe disease. Pediatrics, 145(3), e20193651.

Langan, T. J., et al. (2019). Krabbe disease: A review of the genetic and clinical spectrum. European Journal of Pediatric Neurology, 23(3), 341-353.

Books:

Scriver, C. R., et al. (2019). The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill.

Fernandes, J., et al. (2017). Inborn Metabolic Diseases: Diagnosis and Treatment. Springer.

Online Resources:

National Institute of Neurological Disorders and Stroke (NINDS). (2022). Krabbe Disease Fact Sheet.

Genetic and Rare Diseases Information Center (GARD). (2022). Krabbe Disease.

Orphanet. (2022). Krabbe Disease.

Reviews:

Suzuki, K. (2016). Globoid cell leukodystrophy (Krabbe disease). Handbook of Clinical Neurology, 135, 355-365.

Graziano, A. C., et al. (2018). Krabbe disease: From molecular basis to clinical management. International Journal of Molecular Sciences, 19(10), 2831.


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