Type IV A Mucopolysaccharidosis (MPS IV A) is a lysosomal storage disease caused by an autosomal recessive mutation in the gene encoding the enzyme galactosamine‐6‐sulfatase, which catalyses the degradation of glycosaminoglycans (GAGs). It leads to the accumulation of GAGs keratan sulfate. Symptoms include skeletal dysplasia, atlantoaxial instability, pectus carinatum, short stature, laxity of joints, cervical spinal cord compression, cardiac and pulmonary complications, corneal opacity, impaired hearing but normal cognitive development. These patients have a shorter life expectancy, requiring physical management, palliative care and treatment of complications.
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