Mucopolysaccharidosis Type IVa (Morquio Syndrome) Clinical Features and Management: Case Report
Mucopolysaccharidosis type IV A (MPS IV A), often referred to as Morquio syndrome, is a rare genetic disease characterised by an autosomal recessive deficiency in N-acetylgalactosamine-6-sulfatase (GALNS), which results in the accumulation of glycosaminoglycans within cells. Treating individuals with this condition with enzyme replacement therapy has proven to be essential. Radiographic imaging, clinical evaluation, and biochemical testing are used to diagnose MPS IV A. Notable skeletal anomalies, aberrant joint mobility, severe growth impairment, dental misalignment, and defects in the enamel are the characteristics of the disorder. This clinical case report details the dental care provided to a sevenyear-old Saudi Arabian girl with many bone anomalies.
Authors
- Muaath H Alzahrani (ORCID: https://orcid.org/0009-0000-9719-5788)
- Fouad H Althobaiti
- Alkhulaisi Shatha
Institutions
- Taif University (SA)
- Ministry of Health (AE)
Publication Details
- Journal
- Medicine and Clinical Science
- Published
- 2024-12-30
- DOI
- https://doi.org/10.33425/2690-5191.1129
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00