A Korean Patient with Early Juvenile Form of Metachromatic Leukodystrophy: Biochemical and Molecular Genetic Investigation
Laboratory Medicine Online
;
: 41-44, 2017.
Artigo
em Coreano
| WPRIM
| ID: wpr-100532
ABSTRACT
Metachromatic leukodystrophy is an inherited lysosomal storage disorder caused by the deficiency of arylsulfatase A activity. The patient in this study, a 5-yr-old girl, presented with progressive psychomotor regression. An MRI image of her brain showed bilateral symmetrical demyelination. The arylsulfatase A activity in her leukocytes was decreased to 8.0 nmol/hr/mg protein (reference range, 25-80 nmol/hr/mg protein). Mutation analysis of ARSA, using PCR and direct sequencing, showed two heterozygote pathogenic variations of c.449C>T (p.Pro150Leu) and c.640G>A (p.Ala214Thr). In summary, we report a Korean patient with an early juvenile form of metachromatic leukodystrophy, who was diagnosed based on her clinical symptoms as well as by using biochemical, radiological, and molecular genetic investigations.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Encéfalo
/
Imageamento por Ressonância Magnética
/
Cerebrosídeo Sulfatase
/
Reação em Cadeia da Polimerase
/
Doenças Desmielinizantes
/
Heterozigoto
/
Leucócitos
/
Leucodistrofia Metacromática
/
Biologia Molecular
Limite:
Feminino
/
Humanos
Idioma:
Coreano
Revista:
Laboratory Medicine Online
Ano de publicação:
2017
Tipo de documento:
Artigo
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