Metachromatic Leukodystrophy (MLD): A Rare Genetic Disorder in child

Metachromatic leukodystrophy is a rare hereditary neurodegenerative disorder that causes fattysubstances to build up in cells, particularly in the brain, spinal cord and peripheral nerves. This iscaused by a deficiency of an enzyme that helps break down lipids called sulfatides. We present acase of a four-year-old boy born of non-consanguinous marriage with complaints of progressive lossof fully developed motor milestones as the inability to walk and sit (regression of achieved motormilestones). The patient was diagnosed with MLD based on whole xome sequencing and dischargedon symptomatic care and physiotherapy to improve the patient's quality of life.