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.
KeywordsHematopoietic Stem Cell Transplantation Preimplantation Genetic Diagnosis Tubular Bone Umbilical Cord Blood Transplantation Corneal Clouding
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