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P R Health Sci J ; 42(4): 332-334, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38104293

ABSTRACT

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.


Subject(s)
Chondroitinsulfatases , Mucopolysaccharidosis IV , Male , Humans , Child , Female , Child, Preschool , Mucopolysaccharidosis IV/genetics , Mucopolysaccharidosis IV/therapy , Chondroitinsulfatases/genetics , Chondroitinsulfatases/metabolism , Delivery of Health Care
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