| Literature DB >> 24334127 |
Laura Lorioli1, Martina Cesani2, Stefano Regis3, Francesco Morena4, Serena Grossi3, Francesca Fumagalli5, Serena Acquati2, Daniela Redaelli2, Antonella Pini6, Maria Sessa5, Sabata Martino4, Mirella Filocamo3, Alessandra Biffi7.
Abstract
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.Entities:
Keywords: 4-MUS; 4-methyl-umbellipheryl-sulfate; ARSA; ARSB; Arylsulfatase A; Arylsulfatase B; DEAE Cellulose chromatography; Diethylaminoethyl Cellulose chromatography; Enzymatic activity; HD; Healthy Donor; MLD; MRI; Magnetic Resonance Imaging; Metachromatic Leukodystrophy; Molecular diagnosis; PD allele; PseudoDeficiency allele; SapB; Saposin B; Sib; Sibling; p-NCS; p-nitrocatechol sulfate
Mesh：
Substances：
Year: 2013 PMID： 24334127 DOI： 10.1016/j.gene.2013.11.062
Source DB: PubMed Journal: Gene ISSN： 0378-1119 Impact factor: 3.688