Sphingolipidosis

Definition:

The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in one or more organs.

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]. C Sevin, et al. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. J Inherit Metab Dis. 2007 Apr;30(2):175-83. [Content Brief]

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

[4]. Ladislav Kuchar, et al. Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. Am J Med Genet A. 2009 Feb 15;149A(4):613-21. [Content Brief]

[5]. Lars Schlotawa, et al. Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. Hum Mutat. 2008 Jan;29(1):205. [Content Brief]

[6]. Matthias Eckhardt, et al. The role and metabolism of sulfatide in the nervous system. Mol Neurobiol. 2008 Apr-Jun;37(2-3):93-103. [Content Brief]

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

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