Metachromatic Leucodystrophy: A Case Report

Metachromatic leukodystrophy (MLD) is a rare autosomal recessive inherited disease, which is caused by a deficiency in the enzyme activity of Arylsulfatase A (ARSA). Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside 3-sulfates (sulfatides), which are abundant i...

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Bibliographic Details
Main Authors: Ramchandra Bastola, Shree Krishna Shrestha, Amrita Ghimire, Sunita Ghimire
Format: Article
Language:English
Published: Karnali Academy of Health Sciences 2021-01-01
Series:Journal of Karnali Academy of Health Sciences
Subjects:
Online Access:https://www.jkahs.org.np/jkahs/index.php/jkahs/article/view/399