A rare Case Report of Hurler syndrome with multisystem involvement including glucose intolerance

Authors

  • S Thapa Department of Internal medicine, Gandaki medical college, Nepal
  • TL Upadhyay Department of Internal medicine, Gandaki medical college
  • B Paudel Department of Emergency medicine, Bhingri PHC Nepal
  • R Gyawali Department of Emergency medicine, Grahaun PHC, Nepal

DOI:

https://doi.org/10.3126/jdean.v8i3.65858

Keywords:

glycosaminoglycans, Hurler syndrome, Mucopolysaccharidosis type I, glucose intolerance

Abstract

Background: Mucopolysaccharidosis type I (Hurler syndrome) is a rare autosomal recessive inborn deficiency in the metabolism of glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate, resulting from deficiency of Alpha-L-iduronidase enzyme. An interesting case of a 19 year old male with a combination of skeletal, neurological, ophthalmologic, and radiological findings with MPS I-(Hurler syndrome) has been presented here in this case report.

Downloads

Download data is not yet available.
Abstract
92
PDF
53

Author Biographies

S Thapa, Department of Internal medicine, Gandaki medical college, Nepal

Resident

TL Upadhyay, Department of Internal medicine, Gandaki medical college

Professor

B Paudel, Department of Emergency medicine, Bhingri PHC Nepal

Medical Officer

R Gyawali, Department of Emergency medicine, Grahaun PHC, Nepal

Medical Officer

Cover JDEAN

Downloads

Published

2024-05-14

How to Cite

Thapa, S., Upadhyay, T., Paudel, B., & Gyawali, R. (2024). A rare Case Report of Hurler syndrome with multisystem involvement including glucose intolerance. Journal of Diabetes and Endocrinology Association of Nepal, 8(3), 39–41. https://doi.org/10.3126/jdean.v8i3.65858

Issue

Supplementary Issue, May 2024

Section

Case Reports

License

Copyright (c) 2024 The Author(s)

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

This license enables reusers to distribute, remix, adapt, and build upon the material in any medium or format for non-commercial purposes only, and only so long as attribution is given to the creator.