I-cell disease is an autosomal recessive disorder caused by a deficiency of GlcNAc phosphotransferase, which phosphorylates mannose residues to mannose-6-phosphate on N-linked glycoproteins in the Golgi apparatus within cells.

Inclusion-cell (I-cell) disease, also known as mucolipidosis II, is a rare inherited disorder that affects multiple organ systems in the body. It is a lysosomal storage disorder that primarily affects lysosomes—membrane-bound organelles found in the cytoplasm of most eukaryotic cells.

Sep 17, 2007 · I-cell disease (mucolipidosis II) is a rare inherited metabolic disorder characterized by coarse facial features, skeletal abnormalities and mental retardation. The symptoms of I-cell disease are similar to but more severe than those of Hurler syndrome.

What is mucolipidosis II (ML II)? Mucolipidosis II (ML II) is a rare, inherited disorder that is progressive in nature and affects many of the body’s systems. Mucolipidosis II is also known as I-cell disease. The condition is classified as a lysosomal storage disorder (LSD).

The term I-cell, or inclusion cell, refers to the presence of cytoplasmic inclusions associated with lysosomes. Onset occurs at birth, and disease progression results in death during the first decade.

Mucolipidosis type II (ML II), also known as I cell disease, is a rare and progressive metabolic disorder that involves our body's ability to break down certain fats (mucolipids).

Jan 11, 2023 · Cells like hepatocytes, Kupffer cells, leukocytes, and organs such as the liver, kidney, and brain have near-normal levels of lysosomal enzymes in ICD. Acid phosphatase and beta-glucocerebrosidase do not use the M6P-dependent pathway in any cell type.

May 25, 2023 · I-cell disease is an extremely rare inherited metabolic lysosomal storage disorder. If not treated, it may result in the early death of the affected individual. It is a debilitating type of disorder. More research is aimed at experimental therapies that can treat I …

Inclusion-cell disease or I-cell disease (mucolipidosis II) is a rare autosomal recessive metabolic disease with a prevalence of 1 in 100,000–400,000. Patients present from birth with a severe skeletal dysplasia and profound short stature.

I-cells, also called inclusion cells, are abnormal fibroblasts having a large number of dark inclusions in the cytoplasm of the cell (mainly in the central area). Inclusion bodies are nuclear or cytoplasmic aggregates of stainable substances, usually proteins. [1] These metabolically inactive aggregates are not enclosed by a membrane, and are composed of fats, proteins, …