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Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series

Department of Metabolic Biochemistry, Rouen University Hospital, Rouen 76031, France
Region-Inserm Team NeoVasc ERI28, Laboratory of Microvascular Endothelium and Neonatal Brain Lesions, Institute of Research for Innovation in Biomedicine, Normandy University, Rouen 76031, France
Department of Pediatrics, Oran University Hospital, Oran 31000, Algeria
Department of Neonatal Pediatrics and Intensive Care, Rouen University Hospital, Rouen 76031, France
Pathology Laboratory, Rouen University Hospital, Rouen 76031, France
Author to whom correspondence should be addressed.
Academic Editor: Ritva Tikkanen
Int. J. Mol. Sci. 2016, 17(5), 743;
Received: 1 April 2016 / Revised: 2 May 2016 / Accepted: 6 May 2016 / Published: 17 May 2016
Mucopolysaccharidoses (MPS’s) represent a subgroup of lysosomal storage diseases related to a deficiency of enzymes that catalyze glycosaminoglycans degradation. Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by a deficiency of α-l-iduronidase encoded by the IDUA gene. Partially degraded heparan sulfate and dermatan sulfate accumulate progressively and lead to multiorgan dysfunction and damage. The aim of this study is to describe the clinical, biochemical, and molecular characteristics of 13 Algerian patients from 11 distinct families. MPS I diagnosis was confirmed by molecular study of the patients’ IDUA gene. Clinical features at the diagnosis and during the follow-up are reported. Eighty-four percent of the studied patients presented with a mild clinical phenotype. Molecular study of the IDUA gene allowed the characterization of four pathological variations at the homozygous or compound heterozygote status: IDUA NM_00203.4:c.1598C>G-p.(Pro533Arg) in 21/26 alleles, IDUA NM_00203.4:c.532G>A-p.(Glu178Lys) in 2/26 alleles, IDUA NM_00203.4:c.501C>G-p.(Tyr167*) in 2/26 alleles, and IDUA NM_00203. 4: c.1743C>G-p.(Tyr581*) in 1/26 alleles. This molecular study unveils the predominance of p.(Pro533Arg) variation in our MPS I patients. In this series, the occurrence of some clinical features linked to the Scheie syndrome is consistent with the literature, such as systematic valvulopathies, corneal opacity, and umbilical hernia; however, storage signs, facial dysmorphic features, and hepatomegaly were more frequent in our series. Screening measures for these debilitating diseases in highly consanguineous at-risk populations must be considered a priority health problem. View Full-Text
Keywords: mucopolysaccharidosis type I; IDUA; GAGs; heparin sulfate; dermatan sulfate mucopolysaccharidosis type I; IDUA; GAGs; heparin sulfate; dermatan sulfate
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Tebani, A.; Zanoutene-Cheriet, L.; Adjtoutah, Z.; Abily-Donval, L.; Brasse-Lagnel, C.; Laquerrière, A.; Marret, S.; Chalabi Benabdellah, A.; Bekri, S. Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series. Int. J. Mol. Sci. 2016, 17, 743.

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