Critical issues for the proper diagnosis of Metachromatic Leukodystrophy.
Gene
; 537(2): 348-51, 2014 Mar 10.
Article
em En
| MEDLINE
| ID: mdl-24334127
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.
Palavras-chave
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
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cerebrosídeo Sulfatase
/
Leucodistrofia Metacromática
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Gene
Ano de publicação:
2014
Tipo de documento:
Article