Lysosomal storage diseases (LSDs); frequently present as paediatric neurodegenerative diseases are a group of more than seventy diseases which are characterized by deficiencies in normal lysosomal function and by intralysosomal accumulation of undegraded substrates, most of which are inherited as autosomal recessive traits. LSDs affect almost all organ systems, including the central nervous system and have high morbidity and mortality. Most of the genes encoding the deficient lysosomal enzymes in LSDs have been cloned, and animal models have been obtained for almost each disease. Now knowledge has improved about the disease pathogenesis and there is progress in the treatment approach by the development of multiple therapeutic approaches. Different modalities of treatment, including enzyme replacement therapy, stem cell transplantation, substrate reduction therapy, and others are available and have been shown to improve outcome. This review summarizes the clinical features, diagnosis, and management of LSDs with an emphasis on the burden in Indian population.

Keywords:Lysosomal Storage Diseases; Niemann-Pick Disease; Gaucher Disease; Newborn Screening; Tandem Mass Spectrometry

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Citation

Citation: Narayanan MP. “Lysosomal Storage Disorders: An Indian Perspective”. Acta Scientific Paediatrics 3.2 (2020): 10-14.

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Copyright: © 2020 Mir Narayanan MP. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.