Metachromatic leukodystrophy

Definition:

Metachromatic leukodystrophy (MLD) is an autosomal recessive demyelinating lysosomal storage disease caused by deficiency of lysosomal arylsulfatase A (ARSA). The enzyme defect results in the accumulation of sulfatide in the central and peripheral nervous systems and extensive white matter damage and loss of both cognitive and motor functions. Mutated PSAP gene resulting in sphingolipid activator protein B deficiency is known to cause MLD variant in which ARSA is normal.

References:

[1]. A Polten, et al. Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med. 1991 Jan 3;324(1):18-22. [Content Brief]

[2]. 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]

[3]. 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]

[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]. 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]

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

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