Karki, SubhanaRai, Ganesh KumarKafle, Raju2026-06-022026-06-022011https://hdl.handle.net/20.500.14572/6335Subhana Karki Assistant Professor, Kanti Children's Hospital, Maharajgunj, Kathmandu, and affiliated to National Academy of Medical Sciences, Bir Hospital, Mahabauddha, Kathmandu Ganesh Kumar Rai Associate Professor, Kanti Children's Hospital, Maharajgunj, Kathmandu, and affiliated to National Academy of Medical Sciences, Bir Hospital, Mahabauddha, Kathmandu Raju Kafle Kanti Children's Hospital, Maharajgunj, Kathmandu, and affiliated to National Academy of Medical Sciences, Bir Hospital, Mahabauddha, KathmanduAbstract: Metachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative disorder characterized by deficient activity of the enzyme arylsulfatase-A. Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside 3-sulfates (sulfatides), which are abundant in myelin and neurons. A pathological hallmark of MLD is demyelination and neurodegeneration, causing various and ultimately lethal neurological symptoms. Its frequency is estimated to be 1/40,000 live births. The disease encompasses three clinical subtypes: late infantile (40% of the patients with MLD), juvenile (40%), and adult (20%).en-USMetachromatic LeucodystrophyArticle