LSDDB

Krabbe disease

The disease is also known as globoid cell leukodystrophy. It is caused due to the deficient activity of Galactocerebrosidase (GALC) enzyme. Since the enzyme hydrolyses psychosine and galactosylceramide, its deficient activity leads to their accumulation. Psychosine is known to be toxic to oligodentrocytes and Schwann cells which lead to formation of multinucleated globoid cells. The gene encoding the enzyme GALC is located at 14q31.3 (Pavuluri et al., 2017; Bascou et al., 2018).

Reference :
Bascou, N. et al. (2018) ‘A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life’, Orphanet Journal of Rare Diseases, 13, p. 126. doi: 10.1186/s13023-018-0872-9.
Pavuluri, P. et al. (2017) ‘Krabbe Disease: Report of a Rare Lipid Storage and Neurodegenerative Disorder’, Cureus, 9(1), p. e949. doi: 10.7759/cureus.949.