title: Critical issues for the proper diagnosis of Metachromatic Leukodystrophy.
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.
authors: San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; HSR-TIGET Pediatric Clinical Research Unit, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; Pediatric Immunohematology, San Raffaele Scientific Institute, Milan, Italy; Vita Salute San Raffaele University, Milan, Italy.
authors: Laura
authors: L
authors: Lorioli
authors: San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.
authors: Martina
authors: M
authors: Cesani
authors: "Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche", Istituto G. Gaslini, Genova, Italy.
authors: Stefano
authors: S
authors: Regis
authors: Department of Experimental Medicine and Biochemical Sciences, Sect. Biochemistry and Molecular Biology, University of Perugia, Italy.
authors: Francesco
authors: F
authors: Morena
authors: "Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche", Istituto G. Gaslini, Genova, Italy.
authors: Serena
authors: S
authors: Grossi
authors: HSR-TIGET Pediatric Clinical Research Unit, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; Neurology Unit, Department of Neurology, San Raffaele Scientific Institute, Milan, Italy.
authors: Francesca
authors: F
authors: Fumagalli
authors: San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.
authors: Serena
authors: S
authors: Acquati
authors: San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.
authors: Daniela
authors: D
authors: Redaelli
authors: Child Neuropsychiatric Unit, IRCCS Istituto Scienze Neurologiche, AUSL Bologna, Bologna, Italy.
authors: Antonella
authors: A
authors: Pini
authors: HSR-TIGET Pediatric Clinical Research Unit, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; Neurology Unit, Department of Neurology, San Raffaele Scientific Institute, Milan, Italy.
authors: Maria
authors: M
authors: Sessa
authors: Department of Experimental Medicine and Biochemical Sciences, Sect. Biochemistry and Molecular Biology, University of Perugia, Italy.
authors: Sabata
authors: S
authors: Martino
authors: "Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche", Istituto G. Gaslini, Genova, Italy.
authors: Mirella
authors: M
authors: Filocamo
authors: San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; HSR-TIGET Pediatric Clinical Research Unit, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; Pediatric Immunohematology, San Raffaele Scientific Institute, Milan, Italy. Electronic address: biffi.alessandra@hsr.it.
authors: Alessandra
authors: A
authors: Biffi
mesh_terms: D000483:Alleles; D002553:Cerebroside-Sulfatase / Q000097:blood / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis* / Q000235:genetics*; D008297:Male
chemical_list: D002553:Cerebroside-Sulfatase
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