A Korean Patient with Early Juvenile Form of Metachromatic Leukodystrophy: Biochemical and Molecular Genetic Investigation
Laboratory Medicine Online
; : 41-44, 2017.
Article
in Ko
| WPRIM
| ID: wpr-100532
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Brain
/
Magnetic Resonance Imaging
/
Cerebroside-Sulfatase
/
Polymerase Chain Reaction
/
Demyelinating Diseases
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Heterozygote
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Leukocytes
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Leukodystrophy, Metachromatic
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Molecular Biology
Limits:
Female
/
Humans
Language:
Ko
Journal:
Laboratory Medicine Online
Year:
2017
Type:
Article