Inclusion-cell (I-cell) disease is a genetic disease inherited in an autosomal recessive manner. A person must inherit two copies of the defective gene (one from each parent) to develop the disease. If both parents are carriers of a GNPTAB (protein-coding gene) gene mutation, their children have a 25 percent chance of inheriting two copies of the mutated gene and developing I …

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. Without mannose-6-phosphate to target them to the lysosomes, the enzymes are erroneously transported from the Golgi to the extracellular space.

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). In these disorders, genetic variations disrupt the normal activity of lysosomes in human cells.

2023年1月11日 · ICD, also known as Leroy I-cell disease, is an autosomal recessive lysosomal storage disorder due to a mutation of G1cNAc-1-phosphotransferase. The term 'mucolipidosis' covers diseases belonging to both mucopolysaccharidoses and sphingolipidoses. ICD has features of both disease categories and is classified as such.

2007年9月17日 · I-cell disease can be diagnosed before birth (prenatally) utilizing amniocentesis or chorionic villus sampling. Amniocentesis is a procedure in which a small portion of the fluid that surrounds the fetus (amniotic fluid) is removed and cells from the fluid are then tested in the laboratory. Chorionic villus sampling (CVS) is a prenatal ...

2023年5月25日 · What Is I-Cell Disease? I-Cell disease is a rare hereditary metabolic disorder that is debilitating and progressive in nature, affecting many body parts. Most individuals do not live past early childhood. Children suffering from I-cell disease at birth are small and have weak muscle tone and a weak cry. The affected children gradually grow ...

Abstract. Background: Inclusion cell disease (I-cell) is a rare autosomal recessive metabolic disease involving multiple organ systems, associated with a severely restricted life expectancy.No curative therapy is currently available, with management aimed at symptom palliation. Methods: We present a retrospective, single-centre, case series of children referred to a …

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). Symptoms typically present in infancy or early childhood and include weak muscle tone (hypotonia), developmental delay, limited mobility, clubfeet, thickened skin ...

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. I-cell disease exhibits signs and symptoms of both the mucopolysaccharidoses, particularly Hurler syndrome, and the sphingolipidoses.

I-cell disease is associated with various clinical features that affect physical appearance, organ function, and growth development. The severity of these symptoms varies between individuals, though the prognosis is poor due to the disease’s systemic nature. I-Cell Disease patients may also experience impaired cognitive and motor development.