Critical issues for the proper diagnosis of Metachromatic Leukodystrophy

Laura Lorioli, Martina Cesani, Stefano Regis, Francesco Morena, Serena Grossi, Francesca Fumagalli, Serena Acquati, Daniela Redaelli, Antonella Pini, Maria Sessa, Sabata Martino, Mirella Filocamo, Alessandra Biffi

Research output: Contribution to journalArticlepeer-review


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 thorough biochemical analysis allowed the correct diagnosis of the sibling, who was promptly directed to treatment.

Original languageEnglish
Pages (from-to)348-351
Number of pages4
Issue number2
Publication statusPublished - Mar 10 2014


  • Arylsulfatase A
  • Enzymatic activity
  • Metachromatic Leukodystrophy
  • Molecular diagnosis

ASJC Scopus subject areas

  • Genetics


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