Krabbe disease

Definition:

Krabbe disease is an autosomal recessive disorder caused by deficient activity of galactosylceramidase.

References:

[1]. Bryce A Heese, et al. Current strategies in the management of lysosomal storage diseases. Semin Pediatr Neurol. 2008 Sep;15(3):119-26. [Content Brief]

[2]. D A Wenger, et al. Krabbe disease: genetic aspects and progress toward therapy. Mol Genet Metab. 2000 May;70(1):1-9. [Content Brief]

[3]. N Sakai, et al. Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase. Biochem Biophys Res Commun. 1994 Jan 28;198(2):485-91. [Content Brief]

[4]. Ronen Spiegel, 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. Mol Genet Metab. 2005 Feb;84(2):160-6. [Content Brief]

[5]. Thomas Kolter, et al. Sphingolipid metabolism diseases. Biochim Biophys Acta. 2006 Dec;1758(12):2057-79. [Content Brief]

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