A Korean Patient with Early Juvenile Form of Metachromatic Leukodystrophy: Biochemical and Molecular Genetic Investigation
Laboratory Medicine Online
; : 41-44, 2017.
Article
em Ko
| WPRIM
| ID: wpr-100532
Biblioteca responsável:
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.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Encéfalo
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Imageamento por Ressonância Magnética
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Cerebrosídeo Sulfatase
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Reação em Cadeia da Polimerase
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Doenças Desmielinizantes
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Heterozigoto
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Leucócitos
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Leucodistrofia Metacromática
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Biologia Molecular
Limite:
Female
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Humans
Idioma:
Ko
Revista:
Laboratory Medicine Online
Ano de publicação:
2017
Tipo de documento:
Article