I-cell disease


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I-cell disease

[′ī‚sel diz‚ēz]
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The main histologic differential diagnoses are other nephropathies with foamy podocytes, such as lysosomal inhibitor toxicity and other renal lipidoses (GM1 gangliosidosis, I-cell disease, Hurler syndrome, Niemann-Pick disease, Farber disease, and infantile nephrosialidosis).
Fabry Nephropathy
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. The patient and his wife, both present, want to know how this might affect their future children.
A 'Typical' day in my practice
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).
A hypothesis for I-cell disease. Defective hydrolases that do not enter lysosomes.
Protein glycosylation and diseases: blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring
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).
Glycosylasparaginase as a marker enzyme in the detection of I-cell disease
I-cell disease (mucolipidosis II): a lysosomopathy.
Mucolipidosis type III [alpha]/[beta]: the first characterization of this rare disease by autopsy

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