粘多糖贮积症(MPS)是一种由溶酶体酶缺乏引起的代谢紊乱。它是一种常染色体隐性遗传疾病,在男性和女性中发病率相似。粘多糖贮积症IVA型是由N-乙酰半乳糖胺-6-硫酸酯酶缺乏引起的,哪种缺陷是,反过来,由GALNS基因的改变引起的。它的特点是身材矮小,鸽子箱,额前带,后凸畸形,还有一个扁平的鼻梁.口头,巨舌,缺省症,牙本质发育不全,一张宽阔的嘴,前开口咬合是一些共同的特征。本文报道一例5岁男性患者的MPS,除了提供与MPSIVA相关的口腔表现的文献综述和见解外,也被称为MorquioA综合征,和它的牙科治疗。它旨在强调在MPSIVA治疗的不同阶段在这种情况下口腔保健的临床建议。
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.