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 |
|