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Article

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

International journal of molecular sciences - 17 May 2016

Tebani Abdellah, Zanoutene-Cheriet Lahouaria, Adjtoutah Zoubir, Abily-Donval Lenaig, Brasse-Lagnel Carole, Laquerrière Annie, Marret Stephane, Chalabi Benabdellah Abla, Bekri Soumeya

Abstract excerpt

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...

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Source

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Identifiers

PMID: 27196898
DOI: 10.3390/ijms17050743
PMCID: PMC4881565

Genes

IDUA

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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