Abstract:Background. Mucolipidosis type 3 gamma (ML-IIIγ) is an autosomal recessive, rare and slowly progressive lysosomal storage disease. Short stature, restricted joint mobility, thick skin, and flat face with mildly coarse features are major clinical findings. It usually manifests in the third year. With advancing age, claw hand deformities, carpal tunnel syndrome, and scoliosis may develop. Morbidity is determined mainly by skeletal involvement. N-acetyl glucosamine-1 phospotransferase enzyme is composed of 2α, 2β… Show more
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