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Mucopolisacaridosis de tipo I Hurler: Informe de un caso

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Authors
Amorín, Milagros
Carlina, Andrea
Prötzel, Ana
Issue Date
2014-03-05
Keywords
Mucopolisacaridosis
Síndrome de Hurler
MPS I
Trastorno genético
Terapia de reemplazo enzimático

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Other Titles
Mucopolysaccharidosis I, Hurler syndrome: A case report
Citation
Arch. argent. pediatr. vol.110 no.5 Buenos Aires oct. 2012
Publisher
Sociedad Argentina de Pediatría (SAP)
URI
http://hdl.handle.net/10757/313689
DOI
10.5546/aap.2012.e103
Additional Links
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0325-00752012000500017&lng=es&nrm=iso&tlng=es
Abstract
Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caused by deficiency on the enzyme α-L-iduronidase. This defect results in accumulation of heparan and dermatan sulfate in different tissues and organs due to a deficiency in the catabolism of glycosaminoglycans. The overall incidence of MPS I is 0.99-1.99/100.000 live births. There are three clinical presentations: Hurler (severe), Hurler Scheie (mild) and Scheie (mild). We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme α-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth. After enzyme replacement therapy the patient has shown improvement of visceral symptoms, but the neurological damage continuous in progress. Key words: mucopolysaccharidosis, Hurler syndrome, MPS 1, Hurler, genetic disorder, enzymatic replacement therapy, ERT.
Type
info:eu-repo/semantics/article
Rights
info:eu-repo/semantics/openAccess
Language
spa
ISSN
0325-0075
ae974a485f413a2113503eed53cd6c53
10.5546/aap.2012.e103
Scopus Count
Collections
Medicina

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