|
KMID : 1100820170070010041
|
|
Laboratory Medicine Online
2017 Volume.7 No. 1 p.41 ~ p.44
|
|
|
A Korean Patient with Early Juvenile Form of Metachromatic Leukodystrophy: Biochemical and Molecular Genetic Investigation
|
|
Kim Yeong-Bin
Park Hyung-Doo
Choi Ri-Hwa
Lee Soo-Youn
Ki Chang-Seok
Song Jung-Han
Kim Jong-Won
Lee Jee-Hun
|
|
|
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.
|
|
|
KEYWORD
|
|
|
Metachromatic leukodystrophy, Arylsulfatase A, ARSA
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|