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.

2023年1月11日 · Dysfunctional protein targeting may lead to the accumulation of proteins and enzymes in abnormal locations. ICD is a disorder of protein targeting. ICD, also known as Leroy I-cell disease, is an autosomal recessive lysosomal storage disorder due to a mutation of G1cNAc-1-phosphotransferase.

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).

2007年9月17日 · 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.

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).

I-Cell Disease. I-cell disease, or mucolipidosis II, is a severe autosomal recessive storage disorder of lysosomal enzyme localization. The skeletal and central nervous systems are most severely affected, but characteristic skin changes also occur.

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.

2023年5月25日 · 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-cell disease as early as possible.

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] .