A Clinical Diagnostic Dilemma in Mucopolysaccharidosis
Journal Title: Pediatric Education and Research - Year 2019, Vol 7, Issue 3
Abstract
Mucopolysaccharidoses (MPS) are progressive diseases that are hereditary and are caused by mutations of genes coding for lysosomal enzymes needed for stepwise degradation of glycosaminoglycans GAGs.1 There are 11 known enzyme deficiencies which give rise to seven MPS types. Hunter disease or mucopolysaccharidosis-II is an X linked recessive disease and is due to deficiency of iduronate 2 sulfatase. This in turn leads to accumulation of glycosoaminoglycans (GAG), dermatan and heparan sulfate. The intracellular and extracellular accumulation of these substances leads to multisystem abnormality. A 7 year old male child came with clinical features of MPS but the type of MPS was difficult to ascertain clinically. The genetic study confirmed it to be Hunters disease or MPS type II. The clinical features of MPS are overlapping therefore genetic studies to confirm the diagnosis become essential to give appropriate enzyme replacement therapy.
Authors and Affiliations
Anushka Prabhudesai
Keywords
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- EP ID EP649459
- DOI 10.21088/per.2321.1644.7319.7
- Views 88
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