Alpha-L-iduronidase deficiency | Nuha Nasser Al Zaabi |
Summary :
The IDUA gene (MIM 252800) provides instructions for producing alpha-Liduronidase, which is essential for the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the IDUA gene have been found to cause mucopolysaccharidosis type I (MPS I) (MIM 607014). This leads to the accumulation of GAGs within lysosomes causing many different organs and tissues to be dysfunctional. Deleted IDUA gene has not been reported in literatures which showed to be associated with severe phenotype in our proband case.
About Author :
Nuha Alzaabi is Metabolic genetic physician working currently in Fujairah Hospital. She has finished her MBBS from UAE university. Then She joined Pediatric Arab board residency program in Fujairah Hospital and finished in 2015. She Had also MRCPCH. In 2015, she joined biochemical genetic fellowship in United Arab University and finished in 2018. Currently she is working as metabolic genetic consultant in Fujairah hospital in UAE and as a program director for pediatric Arab board residency program.
