title: Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia.
abstract: 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.
  
  
  OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  MPS type I and type IVA seems to be associated with consanguinity in Tunisia.
authors.affiliation: Laboratory of biochemistry, Farhat-Hached Hospital, 4000 Sousse, Tunisia. khedhirisouhir@yahoo.fr
authors.forename: S
authors.initials: S
authors.lastname: Khedhiri
authors.forename: L
authors.initials: L
authors.lastname: Chkioua
authors.forename: H
authors.initials: H
authors.lastname: Bouzidi
authors.forename: A
authors.initials: A
authors.lastname: Dandana
authors.forename: H
authors.initials: H
authors.lastname: Ben Turkia
authors.forename: A
authors.initials: A
authors.lastname: Miled
authors.forename: S
authors.initials: S
authors.lastname: Laradi
mesh_terms: D000293:Adolescent; D002648:Child; D002811:Chondroitinsulfatases / Q000172:deficiency / Q000235:genetics; D003241:Consanguinity; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007068:Iduronidase / Q000172:deficiency / Q000235:genetics; D007223:Infant; D007438:Introns / Q000235:genetics; D008297:Male; D008059:Mucopolysaccharidosis I / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology; D009085:Mucopolysaccharidosis IV / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D014416:Tunisia / Q000453:epidemiology
chemical_list: D002811:Chondroitinsulfatases; C102295:GALNS protein, human; D007068:Iduronidase