Hunter Syndrome: A Rare Case Report

Abstract

Abstract

Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare hereditary lysosomal storage disorder caused by mutations in the IDS gene. This leads to a lack of the lysosomal enzyme iduronate-2. Sulfatase (I2S), causing glucose accumulation and causing progressive lysosomal storage of GAGs in various organs. Diagnosis involves molecular traits, biochemical measurements, and clinical aspects. As patients age, it is crucial to ensure proper transition from paediatric to adult healthcare.Neuronopathic MPS II has involvement of the central nervous system, while non-neuropathic MPS II does not affect the central nervous system.Dermatan sulfate accumulation predominantly takes place in the non-neuronopathic type, sparing the central nervous system.

Keywords: Hunter Syndrome, Mucopolysaccharidosis Type II, Glycosaminoglycans (GAGs