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Journal of the Korean Child Neurology Society 2011;19(3):272-276.
Published online December 30, 2011.
A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis.
Ji Hyun Lee, Kyong Bok Min, Young Mock Lee, Hoon Chul Kang, Joon Soo Lee, Heung Dong Kim
Department 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.
Key Words: Metachromatic leukodystrophy, Arylsulfatase A, ARSA gene, MRI, MR spectroscopy


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