Abstract Background: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder due to the deficiency of arylsulfatase A enzyme. Materials and Methods: This is a retrospective analysis of all clinically suspected MLD cases and confirmed by genetics, enzyme assay, and/or nerve biopsy between June 2015 and May 2020 at a tertiary care center. The clinical profile, enzyme levels, nerve conduction studies, MRI of the brain, and variants of ARSA gene causing MLD were analyzed. Results: Out of the 19 cases of MLD, four were juvenile, and the rest were late infantile variants. Eleven were male. The mean age of presentation in the late infantile variant was 28.4 months, and that of the juvenile variant was 44.5 months. The clinical features of the late infantile variant were developmental delay (30.75%), neuroregression (100%), spasticity (66.6%), dystonia (66.6%), small head (60%), whereas the juvenile variant presented with gait difficulties and neuroregression in all (100%), and seizures in 3 (75%). MRI of the brain showed bilateral symmetrical confluent white matter T2 hyperintensities with sparing of subcortical-U-fibers in all cases. The tigroid pattern was seen in two cases. Normal enzyme level was seen in one, but this child had a pathogenic variant PSAP gene resulting in saposin B deficiency. The targeted next-generation sequencing was done in 11/19 cases and showed ARSA gene variant in 10 and PSAP gene in one child. Nerve conduction studies were done in 12 children, and all showed features suggestive of demyelinating motor polyneuropathy. Nerve biopsy showed metachromatic granules in four children. Conclusion: MLD can present with a developmental delay with or without regression, with or without seizures, with normal or small head. MRI and nerve conduction studies are helpful in diagnosis. Normal enzymes do not rule out MLD. Nerve biopsy may be useful in non-affordable families.