Related Experiment Video
Updated: Jul 4, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia
S Khedhiri1, L Chkioua, H Bouzidi
1Laboratory of biochemistry, Farhat-Hached Hospital, 4000 Sousse, Tunisia. khedhirisouhir@yahoo.fr
Unlabelled:
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by the deficiency of specific enzymes which leads to the lysosomal accumulation of glycosaminoglycanes. Mucopolysaccharidosis type I or Hurler disease is characterized by the deficiency of alpha-l-iduronidase enzyme. Mucopolysaccharidosis type IVA or Morquio A disease is due to the lack of N-acetylgalactosamine-6-sulfate-sulfatase. Theses deficiencies result in a progressive accumulation of the substrates: dermatan and heparan sulfates for Mucopolysaccharidosis type I and keratan sulfate for MPS type IVA. This process leads to progressive and chronic course for visceral attacks of the affected organs such as lungs and heart. In the Hurler disease, the nervous system is particularly affected while in Morquio a disease, a skeletal dysplasia and a normal intelligence are characteristic.
Aim Of The Study:
This study was carried out on MPS type I and MPS type IVA unrelated families recruited from many regions of Tunisia in order to determine the relation between consanguinity and these types of disorders.
Patients And Methods:
Clinical and molecular analyses confirmed the diagnosis for four MPS type I and five MPS type IVA studied families.
Results:
First cousins unions characterize all families except one Hurler family and one Morquio A family where the consanguinity is third cousin degree.
Conclusion:
MPS type I and type IVA seems to be associated with consanguinity in Tunisia.
Related Concept Videos
Type I Diabetes III: Clinical Manifestations
Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Type IV Collagen of Basal Lamina
A type IV collagen molecule has six alpha chains which can exist in...
Cirrhosis II: Pathophysiology
Transcytosis of IgG
IgG molecules from a mother undergo transcytosis starting around 13 weeks of gestation. The amount of IgG transferred and entering the fetal blood circulation increases with...
Type I Diabetes II: Pathophysiology
