Mucolipidosis II (ML II), or I-cell disease, is a rare autosomal recessively inherited storage disorder of lysosomal enzyme hydrolase trafficking due to deficient activity of the multimeric enzyme UDP-N-acetylglucosamine-1-phosphotransferase. The term “I-cell disease” is derived from the observation that fibroblasts from affected individuals show dense inclusions filled with storage material.
KeywordsCholine Glaucoma Oligosaccharide Kelly Hydrolase
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