Average rating
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item.
When enough users have cast their vote on this item, the average rating will also be shown.
Star rating
Your vote was cast
Thank you for your feedback
Thank you for your feedback
Issue Date
2014-03-05Keywords
MucopolisacaridosisSíndrome de Hurler
MPS I
Trastorno genético
Terapia de reemplazo enzimático
Metadata
Show full item recordOther Titles
Mucopolysaccharidosis I, Hurler syndrome: A case reportCitation
Arch. argent. pediatr. vol.110 no.5 Buenos Aires oct. 2012Publisher
Sociedad Argentina de Pediatría (SAP)DOI
10.5546/aap.2012.e103Additional Links
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0325-00752012000500017&lng=es&nrm=iso&tlng=esAbstract
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/articleRights
info:eu-repo/semantics/openAccessLanguage
spaISSN
0325-0075ae974a485f413a2113503eed53cd6c53
10.5546/aap.2012.e103
Scopus Count
Collections