CASE REPORT: MUCOPOLYSACCHRIDOSIS TYPE IV - MORQUIO SYNDROME

Abstract

Mucopolysacchridosis (MPS) are a clinically heterogeneous group of erratic metabolic disorders referred to as lysosomal storage disorders (LSDs). MPS disorders rise owed to deciencies in enzymes that break down glycosaminoglycans (GAGs). [1, 2, 3] The build-up of GAGs, both directly or indirectly, reason of reformist damage to cells, tissues and various organ systems and consequence in severe morbidity and condensed life expectancy. [4, 5] Clinical features that are mutual to all MPS disorders include skeletal and joint abnormalities, dysfunction in vision and hearing, cardiorespiratory problems, hepatosplenomegaly and coarse features. The central nervous system changes are characteristic of some of these disorders, with typical imaging ndings which involves white matter lesions, hydrocephalus, cervical spinal canal stenosis and bone abnormalities of the skull and spine. [6] MPS type IVA or Morquio A syndrome is an autosomal recessive MPS disorder caused by a decit of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which damages lysosomal degradation of keratan sulphate and chondroitin-6-sulphate.