2 results match your criteria: "Biochemistry laboratory Farhat Hached Hospital[Affiliation]"
Unlabelled: Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is X-linked recessive lysosomal storage disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS). Hunter disease can vary from mild to severe, depending on the level of enzyme deficiency. We report the IDS mutation and polymorphisms causing the Hunter syndrome in patients from one family in Tunisia
Patients And Methods: A preliminary diagnosis was made by qualitative detection of urinary glycosaminoglycans of the suspected MPS II probands.
Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.
Diagn Pathol
April 2011
Biochemistry laboratory Farhat Hached Hospital, Street Doctor Moreau, 4000 Sousse, Tunisia.
Article Synopsis
- Mucopolysaccharidosis type I (MPS I) is a genetic disorder resulting from a defect in the IDUA gene, leading to severe and mild manifestations in affected individuals.
- Researchers analyzed mutations in the IDUA gene among 12 Tunisian patients with varying clinical phenotypes to understand the genetic diversity of the disease.
- Five mutations were identified, including a novel mild variant (L578Q) and several others linked to severe forms of MPS I, showcasing a wide range of genetic variation among the patient population.