title: [Diagnostic strategy of mucopolysaccharidosis type I in Tunisia].
abstract: A Tunisian patient affected by mucopolysaccharidosis (MPS) was investigated for a biological analysis (quantitative and qualitative glycosaminoglycans (GAG) screening). We have also done an enzymatic determination of alpha-L-iduronidase activity (IDUA). The most common mutation (p.Gln 70 X, p.Trp 402X and p.Pro 533 Arg) were researched by an enzymatic restriction and sequencing of the IDUA gene. Enzymatic and urinary diagnostics suggested a MPS I phenotype. The patient investigated had the mutation p.Pro 533 Arg in the homozygous status, whereas his parents were heterozygous for this mutation.
authors.affiliation: Laboratoire de biochimie, Hôpital Farhat Hached de Sousse, Tunisie.
authors.forename: L
authors.initials: L
authors.lastname: Chkioua
authors.forename: S
authors.initials: S
authors.lastname: Ferchichi
authors.forename: S
authors.initials: S
authors.lastname: Khedhiri
authors.forename: S
authors.initials: S
authors.lastname: Laradi
authors.forename: A
authors.initials: A
authors.lastname: Bibi
authors.forename: D
authors.initials: D
authors.lastname: Amira
authors.forename: A
authors.initials: A
authors.lastname: Dandana
authors.forename: R
authors.initials: R
authors.lastname: Ben Mansour
authors.forename: H
authors.initials: H
authors.lastname: Ben Limam
authors.forename: M
authors.initials: M
authors.lastname: Chaabouni
authors.forename: R
authors.initials: R
authors.lastname: Froissart
authors.forename: I
authors.initials: I
authors.lastname: Maire
authors.forename: A
authors.initials: A
authors.lastname: Miled
mesh_terms: D002648:Child; D006801:Humans; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000235:genetics; D014416:Tunisia