Morquio Syndrome Type A in Adulthood: A Rare Case Report with Multisystem Involvement

Abstract Introduction: Morquio syndrome type A (MPS IV) is an infrequent disorder of recessive autosomal pattern lysosomal storage disorder due to an inadequacy of N-acetylgalactosamine-6-sulfatase. It typically presents in early childhood with progressive skeletal dysplasia but may remain undiagnosed until adulthood in milder forms. Adult presentations are rare and often complicated by multisystem involvement.

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Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-08-30
DOI
https://doi.org/10.5281/zenodo.18220421
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
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article

Morquio Syndrome Type A in Adulthood: A Rare Case Report with Multisystem Involvement

International Journal of Medical Science and Advanced Clinical Research (IJMACR)
Zenodo (CERN European Organization for Nuclear Research)
Lysosomal Storage Disorders Research
article

Morquio Syndrome Type A in Adulthood: A Rare Case Report with Multisystem Involvement

International Journal of Medical Science and Advanced Clinical Research (IJMACR)
article en

Abstract

Abstract Introduction: Morquio syndrome type A (MPS IV) is an infrequent disorder of recessive autosomal pattern lysosomal storage disorder due to an inadequacy of N-acetylgalactosamine-6-sulfatase. It typically presents in early childhood with progressive skeletal dysplasia but may remain undiagnosed until adulthood in milder forms. Adult presentations are rare and often complicated by multisystem involvement.

Zenodo (CERN European Organization for Nuclear Research)
Advanced Pharma (US)
Good health and well-being
Openalex Percentile: Top 30%
Lysosomal Storage Disorders Research
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