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The Rare Reason of Pain in Hip Girdle: Mucolipidosis Type 3 Gamma
source: The Turkish journal of pediatrics
authors: Kolkıran A,Karaosmanoğlu B,Taşkıran ZE,Şimşek-Kiper PÖ,Utine GE
summary/abstract: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 and 2γ subunits. The active enzyme is essential in the transport of hydrolases to the lysosomes, via addition of mannose-6-phosphate in the Golgi apparatus. GNPTG gene encodes the γ2 subunits, and biallelic mutations cause ML-IIIγ.
organization: Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.DOI: 10.24953/turkjped.2021.06.019
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