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KMID : 1146120160020010001
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Journal of Mucopolysaccharidosis and Rare Diseases
2016 Volume.2 No. 1 p.1 ~ p.4
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Overview of Mucolipidosis Type II and Mucolipidosis Type III α/β
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Kim Su-Jin
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Abstract
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Mucolipidosis type II (MLII; MIM#252500) and type III alpha/beta (MLIIIA; MIM#252600) very rare lysosomal storage disease cause by reduced enzyme activity of GlcNAc-1-phosphotransferase. ML II is caused by a total or near total loss of GlcNAc-1-phosphotransferase activity whether enzymatic activity in patient with ML IIIA is reduced. While ML II and ML III share similar clinical features, including skeletal abnormalities, ML II is the more severe in terms of phenotype. ML III is a much milder disorder, being characterized by latter onset of clinical symptoms and slower progressive course. GlcNAc-1-phosphotransferase is encoded by two genes, GNPTAB and GNPTG, mutations in GNPTAB give rise to ML II or ML IIIA. To date, more than 100 different GNPTAB mutations have been reported, causing either ML II or ML IIIA. Despite development of new diagnostic approach and understanding of disease mechanism, there is no specific treatment available for patients with ML II and ML IIIA yet, only supportive and symptomatic treatment is indicated.
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KEYWORD
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Mucolipidosis, I-cell disease, GNPTAB
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