April 24, 2009

Ruled Out: Metachromatic Leukodystrophy

Bertrand's Arylsulfatase A test, which was sent out to Seattle, came back in today. The result was normal, therefore Metachromatic leukodystrophy (MLD, also called Arylsulfatase A deficiency) has been ruled out.

MLD is a lysosomal storage disease which is commonly listed in the family of leukodystrophies. Leukodystrophiea affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripherial nervous systems.

The remaining lab results, from blood drawn during his skin biopsy on 4/20/09, should be in this Monday. Bertrand's skin biopsy cultured well and is ready to be sent out from the ARUP lab to other labs for fibroblast testing.

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