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Article

Clinical and Molecular Characterization of Pakistani Mucopolysaccharidosis Families with SGSH and GALNS Deficiencies.

Genes - 31 Mar 2026

Awan Farheen Nasir, Zulfiqar Shumaila, Eiman Liza, Asif Maria, Hussain Muhammad Sajid, Dahl Niklas, Baig Shahid Mahmood, Oda Hirotsugu

Abstract excerpt

Background: Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders caused by deficiencies in glycosaminoglycan (GAG)-degrading enzymes, leading to progressive multisystem involvement. Methods: We evaluated two unrelated consanguineous Pakistani families, each with three individuals showing features consistent with MPS. Affected individuals in Family 1 presented with developmental regression, severe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42074519
DOI: 10.3390/genes17040401
PMCID: PMC13116815

Genes

SGSH
GALNS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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