A Korean Patient with Early Juvenile Form of Metachromatic Leukodystrophy: Biochemical and Molecular Genetic Investigation
Laboratory Medicine Online
;
: 41-44, 2017.
Article
Dans Coréen
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Encéphale
/
Imagerie par résonance magnétique
/
Cerebroside-sulfatase
/
Réaction de polymérisation en chaîne
/
Maladies démyélinisantes
/
Hétérozygote
/
Leucocytes
/
Leucodystrophie métachromatique
/
Biologie moléculaire
Limites du sujet:
Femelle
/
Humains
langue:
Coréen
Texte intégral:
Laboratory Medicine Online
Année:
2017
Type:
Article
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