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Article

Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa.

BMC genomics - 9 Oct 2024

Chkioua Latifa, El Fissi Houda, Amri Yessine, Sahli Chayma, Bouzid Fadoua, Boudabous Hela, Tbib Neji, Ferchichi Salima, Massoud Taieb, Alif Najat, Laradi Sandrine, Ben Abdennebi Hassen

Abstract excerpt

BACKGROUND: Mucopolysaccharidosis type I is a lysosomal storage disease resulting from a deficiency in alpha-L-iduronidase (IDUA), which causes the accumulation of partially degraded dermatan sulfate and heparan sulfate. This retrospective study, spanning eight years, analyzed data from 45 MPSI patients. The report aimed to explore the potential origin of the p.P533R mutation in the Maghrebin population by...

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Africa, Northern
Child
Child, Preschool
Founder Effect
Haplotypes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mucopolysaccharidosis I

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PMID: 39385097
DOI: 10.1186/s12864-024-10724-1
PMCID: PMC11462811

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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