A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis.
- Author:
Ji Hyun LEE
1
;
Kyong Bok MIN
;
Young Mock LEE
;
Hoon Chul KANG
;
Joon Soo LEE
;
Heung Dong KIM
Author Information
1. Department of Pediatrics, Gangnam Severance Hospital, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. ymleemd@yuhs.ac
- Publication Type:Case Report
- Keywords:
Metachromatic leukodystrophy;
Arylsulfatase A;
ARSA gene;
MRI;
MR spectroscopy
- MeSH:
Brain;
Cerebroside-Sulfatase;
Enzyme Assays;
Leukodystrophy, Metachromatic;
Magnetic Resonance Spectroscopy;
Molecular Biology
- From:
Journal of the Korean Child Neurology Society
2011;19(3):272-276
- CountryRepublic of Korea
- Language:English
-
Abstract:
Metachromatic leukodystrophy (MLD) is the rare neurometabolic disease caused by the deficiency of the enzyme arylsulfatase A resulting in a deficiency of sulfatide degradation and the target gene is ARSA gene. We report a case of the late infantile form of MLD that was confirmed by means of enzyme assay and gene analysis with typical brain MRI and MR spectroscopy finding.
