The Fundamental Aspects of Hurler Syndrome
Akshata Sanjay Patil
, Tejaswini Ravindra Thanekar , Rupali Vinay Khankari , Sneha Mangal Umale
Hurler syndrome, glycosaminoglycan, ERT, HSCT
Abstract Hurler syndrome is a genetic condition characterized by an alpha-L-iduronidase (IUDA) enzyme deficiency. A severe physiological deformity is caused by the lysosomal storage disorder, which damages one or more acid hydrolases of glycosaminoglycan. While there are currently available therapies, including hematopoietic stem cell transplantation, enzyme replacement therapy, and gene therapy, children with Hurler syndrome initially appear normal at birth and developing the typical clinical manifestations including coarse facies, growth retardation, photophobia and visual impairment, crystalline keratopathy, retinal degeneration, and optic nerve swelling. Therefore, I have attempted to emphasise all the hurler syndrome's essentials in this article.
"The Fundamental Aspects of Hurler Syndrome", IJSDR - International Journal of Scientific Development and Research (www.IJSDR.org), ISSN:2455-2631, Vol.7, Issue 11, page no.1273 - 1275, November-2022, Available :https://ijsdr.org/papers/IJSDR2211191.pdf
Volume 7
Issue 11,
November-2022
Pages : 1273 - 1275
Paper Reg. ID: IJSDR_202817
Published Paper Id: IJSDR2211191
Downloads: 000347203
Research Area: Pharmacy
Country: Dhule, MAHARASHTRA, India
DOI: http://doi.one/10.1729/Journal.32326
ISSN: 2455-2631 | IMPACT FACTOR: 9.15 Calculated By Google Scholar | ESTD YEAR: 2016
An International Scholarly Open Access Journal, Peer-Reviewed, Refereed Journal Impact Factor 9.15 Calculate by Google Scholar and Semantic Scholar | AI-Powered Research Tool, Multidisciplinary, Monthly, Multilanguage Journal Indexing in All Major Database & Metadata, Citation Generator
Publisher: IJSDR(IJ Publication) Janvi Wave
