I-cell disease


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I-cell disease

[′ī‚sel diz‚ēz]
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I-cell disease (mucolipidosis II): a lysosomopathy.
Ultrastructure of cultured fibroblasts in I-cell disease.
Our second patient is a healthy 30-year-old man whose nephew was recently diagnosed with two genetic conditions: DiGeorge syndrome and I-cell disease.
I-Cell disease is a severe and rare genetic disease, inherited in an autonomic recessive manner and caused by the lack of Golgi GlcNAc phosphotransferase (9,22-25).
I-Cell disease and pseudo Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization.
I-Cell disease (mucolipidosis II, McKusick 252500) and a clinically milder, form pseudo-Hurler polydystrophy (mucolipidosis III, McKusick 252600), are autosomal, recessively inherited lysosomal storage diseases in which the transport of newly synthesized lysosomal enzymes into lysosomes is affected (6).