Work

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

Year: 2024

Type: article

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.

Source: Medicine and Clinical Science

DOI: 10.33425/2690-5191.1129

Authors: Fouad Althobaiti, Alkhulaisi Shatha, Muaath Alzahrani

Institution: Ministry of Health

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4405996113