A Korean Patient with Early Juvenile Form of Metachromatic Leukodystrophy: Biochemical and Molecular Genetic Investigation
Laboratory Medicine Online
;
: 41-44, 2017.
Artículo
en 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Encéfalo
/
Imagen por Resonancia Magnética
/
Cerebrósido Sulfatasa
/
Reacción en Cadena de la Polimerasa
/
Enfermedades Desmielinizantes
/
Heterocigoto
/
Leucocitos
/
Leucodistrofia Metacromática
/
Biología Molecular
Límite:
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Laboratory Medicine Online
Año:
2017
Tipo del documento:
Artículo
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