Publication: Mucopolysachharidosis-II: A Rare Case Report
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Date
2020
Authors
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Journal ISSN
Volume Title
Publisher
Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON)
Abstract
Abstract:
Mucopolysaccharidosis belongs to a group of metabolic disorders caused by absence or defective activity of lysosomal enzymes. Mucopolysaccharides are major components of intercellular connective tissue and defect in their metabolism leads to an accumulation of incompletely degraded mucopolysaccharides in the lysosomes which affect various body systems through enzymatic activity. We present a case of mucopolysaccharidosis type II with hallmark cutaneous features, mild mental retardation associated with radiological changes.
Keywords: Glycosaminoglycans, Iduronic Acid, Lysosomes, Mucopolysaccharidosis II
Description
Kalgi Baxi
GCS medical college ahmedabad, Gujarat
Ashish Jagati
Shardaben hospital and NHL medical college Ahmedabad, Gujarat
Pooja Agarwal
Shardaben Hospital,NHL medical hospital, Ahmedabad, Gujurat