Mucopolysachharidosis-II: A Rare Case Report

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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 mucopolysacchari...

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Bibliographic Details
Published in:Nepal Journal of Dermatology, Venereology & Leprology
Main Authors: Kalgi Baxi, Ashish Jagati, Pooja Agarwal
Format: Article
Language:English
Published: Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON) 2020-10-01
Subjects:
Glycosaminoglycans
Iduronic Acid
Lysosomes
Mucopolysaccharidosis II
Online Access:https://nepjol.info/index.php/NJDVL/article/view/25996
Description
Summary: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.
ISSN:2091-0231
2091-167X

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