J Korean Child Neurol Soc.
2011 Dec;19(3):272-276.
A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis
- Affiliations
-
- 1Department of Pediatrics, Gangnam Severance Hospital, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. ymleemd@yuhs.ac
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.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A Korean Patient with Early Juvenile Form of Metachromatic Leukodystrophy: Biochemical and Molecular Genetic Investigation
- Two Cases of Late Infantile Metachromatic Leukodystrophy
- A Case of Adult-onset Metachromatic Leukodystrophy with Normal Nerve Conduction Studies
- MR Imaging of Childhood Metachromatic Leukodystrophy
- Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy
