TY  - JOUR
AU  - Fouad Althobaiti
AU  - Shatha Alkhulaisi
AU  - Muaath Alzahrani
PY  - 2024
DA  - 2024/10/24
TI  - Mucopolysaccharidosis Type IVa (Morquio Syndrome) Clinical Features and Management: Case Report
JO  - Medicine and Clinical Science
VL  - 6
IS  - 5
AB  - 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.
SN  - 2690-5191
UR  - https://dx.doi.org/10.33425/2690-5191.1129
DO  - 10.33425/2690-5191.1129