Lysosomal Storage Disorders: An Underdiagnosed Metabolic Disorder

Dr Shruti Bajaj, Dr Suvarna Magar,Dr Jayesh Sheth

Dr Shruti Bajaj, Dr Suvarna Magar,Dr Jayesh Sheth

Keywords: Lysosomes, Lysosomal storage disorders, metabolic disorders, Enzyme replacement therapy, Neuroregression, hepatosplenomegaly, skeletal dysplasia

Abstract

Lysosomal storage disorders (LSDs) are a group of 70 different metabolic diseases with a likely incidence of 1:5000 to 1:8000. They present with heterogeneous overlapping phenotypes mainly involving regression in learned skill, organomegaly, skeletal dysplasia, mental retardation, cherry red spot and progressive visual loss. Main cause of these disorders is due to the accumulation of cellular debris, undigested protein, fat, carbohydrates, complex lipids due to defect in the gene that regulates the respective enzyme synthesis required for the degradation of the above material. Early diagnosis can help for the initiation of enzyme replacement therapy (ERT) or Bone marrow transplantation (BMT) for a few of theses while prenatal diagnosis holds promise for the prevention of LSDs in future generations. Gene therapy for many of these diseases are evolving in near future as some of them are in clinical trials

Conflict of Interest: None of the authors have any conflict of interest in present work.

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