loading page

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolyscaridosis type I and litature review of molecular basis
  • +1
  • nuha alzaabi,
  • muneera sirajum,
  • Mohd Zaki Al-Wawi,
  • Mohammed Alsuwaiji
nuha alzaabi
United Arab Emirates Ministry of Health and Prevention

Corresponding Author:[email protected]

Author Profile
muneera sirajum
Ras Al Khaimah Medical and Health Sciences University
Author Profile
Mohd Zaki Al-Wawi
Ras Al Khaimah Medical and Health Sciences University
Author Profile
Mohammed Alsuwaiji
Author Profile


The IDUA gene (MIM 252800) provides instructions for producing alpha-L-iduronidase, which is essential for the breakdown of glycosaminoglycans (GAGs). Mutations in the IDUA gene have been found to cause mucopolysaccharidosis type I (MIM 607014). This leads to the accumulation of GAGs within lysosomes causing different organs to be dysfunctional.
30 Jul 2021Submitted to Clinical Case Reports
22 Sep 2021Submission Checks Completed
22 Sep 2021Assigned to Editor
10 Oct 2021Reviewer(s) Assigned
14 Dec 2021Review(s) Completed, Editorial Evaluation Pending
01 Jan 2022Editorial Decision: Revise Minor
22 Jan 20221st Revision Received
31 Jan 2022Submission Checks Completed
31 Jan 2022Assigned to Editor
31 Jan 2022Review(s) Completed, Editorial Evaluation Pending
13 Feb 2022Reviewer(s) Assigned
07 Mar 2022Editorial Decision: Accept