A Korean Patient with Early Juvenile Form of Metachromatic Leukodystrophy: Biochemical and Molecular Genetic Investigation.
- Author:
Yeong Bin KIM
1
;
Hyung Doo PARK
;
Rihwa CHOI
;
Soo Youn LEE
;
Chang Seok KI
;
Junghan SONG
;
Jong Won KIM
;
Jeehun LEE
Author Information
- Publication Type:Case Report
- Keywords: Metachromatic leukodystrophy; Arylsulfatase A; ARSA
- MeSH: Brain; Cerebroside-Sulfatase; Demyelinating Diseases; Female; Heterozygote; Humans; Leukocytes; Leukodystrophy, Metachromatic*; Magnetic Resonance Imaging; Molecular Biology*; Polymerase Chain Reaction
- From:Laboratory Medicine Online 2017;7(1):41-44
- CountryRepublic of Korea
- Language:Korean
- 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.
