Assistant Professor, Department of Paediatric and Preventive Dentistry, JSS Dental College and Hospital, A constituent college of the JSS Academy of Higher Education & Research, Karnataka, India.
Postgraduate, Department of Paediatric and Preventive Dentistry, JSS Dental College and Hospital, A constituent college of the JSS Academy of Higher Education & Research, Karnataka, India.
P R Health Sci J. 2023 Dec;42(4):332-334.
Mucopolysaccharidosis (MPS) is a metabolic disorder resulting from a deficiency of lysosomal enzymes. It is an autosomal recessive disorder with similar incidences in men and women. Mucopolysaccharidosis type IV A is caused by a deficiency of N-acetylgalactosamine-6-sulfatase, which deficiency is, in turn, caused by alterations in the GALNS gene. It is marked by a short stature, a pigeon chest, frontal bossing, kyphosis, and a flat nasal bridge. Intraorally, macroglossia, hypodontia, dentinogenesis imperfecta, a broad mouth, and an anterior open bite are some of the common features. The present paper reports on a case of MPS in a 5-year-old male patient, along with providing a review of the literature and insight into the oral manifestations related to MPS IV A, also called Morquio A syndrome, and its dental treatment. It aims to highlight the clinical recommendations for oral health care in such cases during different phases of MPS IV A treatment.
黏多糖贮积症（MPS）是一种由于溶酶体酶缺乏引起的代谢紊乱疾病。它是一种常染色体隐性遗传疾病，男性和女性的发病率相似。黏多糖贮积症 IVA 型是由于 N-乙酰半乳糖胺-6-硫酸酯酶缺乏引起的，而这种酶的缺乏又是由 GALNS 基因的改变引起的。其特征为身材矮小、鸡胸、额骨突出、脊柱后凸和塌鼻梁。口腔内常见的特征有巨舌、缺牙、牙本质发育不全、口宽和前牙开颌。本文报告了一例 5 岁男性 MPS 患者的病例，并对文献进行了回顾，探讨了与 MPS IVA（也称 Morquio A 综合征）相关的口腔表现及其牙科治疗。旨在强调在 MPS IVA 治疗的不同阶段，对这类患者进行口腔保健的临床建议。
