Article
Critical issues for the proper diagnosis of Metachromatic Leukodystrophy.
Gene - 10 Mar 2014
Lorioli Laura, Cesani Martina, Regis Stefano, Morena Francesco, Grossi Serena, Fumagalli Francesca, Acquati Serena, Redaelli Daniela, Pini Antonella, Sessa Maria, Martino Sabata, Filocamo Mirella, Biffi Alessandra
Abstract excerpt
Metachromatic Leukodystrophy is a lysosomal storage disorder caused by Arylsulfatase A deficiency. Diagnosis is usually performed by measurement of enzymatic activity and/or characterization of the gene mutations. Here we describe a family case in which the determination of enzyme activity alone did not allow diagnosis of the pre-symptomatic sibling of the index case. Only combination of gene sequencing with...
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