DOI: 10.36347/sjmcr.2018.v06i11.001

Pages: 889-893

Morquio A syndrome (Mucopolysaccharidosis type IVA is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of Nacetylgalactosamine-6-sulfate sulfatase (GALNS) causes systemic skeletal spondyloepiphyseal dysplasia presenting as short stature, pectuscarinatum, knock-knee, kyphoscoliosis hypermobile joints, and an abnormal gait with an increased tendency to fall. We present 7 years old female patient presented with history of increase outward curvature of the spine and bowing of leg and arm. Noticed when the patient was at 1 years old. Diagnosis was confirmed by a significant increase in keratan sulfate in urine and marked deficiency of galactosamine-6-sulfate activity in her her blood samples and positive genetic testing and the patient was started on enzyme replacement therapy.