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

Institutions

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
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Mucopolysaccharidosis Type IVa (Morquio Syndrome) Clinical Features and Management: Case Report

Muaath H Alzahrani, Fouad H Althobaiti, Alkhulaisi Shatha
Medicine and Clinical Science
Lysosomal Storage Disorders Research
article

Mucopolysaccharidosis Type IVa (Morquio Syndrome) Clinical Features and Management: Case Report

Muaath H Alzahrani, Fouad H Althobaiti, Alkhulaisi Shatha
article en

Abstract

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.

Medicine and Clinical ScienceVol. 5(6)
Taif University (SA), Ministry of Health (AE)
Good health and well-being
Openalex Percentile: Top 66%
Lysosomal Storage Disorders Research
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.