What are the symptoms of I-cell disease?
What are the symptoms of I-cell disease?
Symptoms may include severe swelling of many soft tissues of the body and abdominal swelling due to the development of fluid-filled sacs (ascites). Cherry red spots in the eyes, skeletal abnormalities, abnormal enlargement of many organs of the body (visceromegaly), and/or mental retardation may also occur.
What are the lysosomal storage disorders and what are the symptoms?
Symptoms of Lysosomal Storage Diseases
- Delay in intellectual and physical development.
- Seizures.
- Facial and other bone deformities.
- Joint stiffness and pain.
- Difficulty breathing.
- Problems with vision and hearing.
- Anemia, nosebleeds, and easy bleeding or bruising.
- Swollen abdomen due to enlarged spleen or liver.
What happens to lysosomal enzymes in I-cell disease?
Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). This enzyme transfers phosphate to mannose residues on specific proteins.
How does I-cell disease affect the Golgi apparatus?
I-cell disease is a genetically inherited lysosomal storage disease that is caused by a defective phosphotransferase enzyme that is located in the Golgi apparatus. This mucolipidosis II (ML II) is a particularly severe form of mucoliposis that resembles clinically the Hurler Syndrome but without mucopolysaccharides.
Can I cell disease be cured?
There is no current cure for I Cell Disease. Treatment is supportive. Bone marrow transplantation may be used to delay or correct neurological deterioration. Intravenous treatment with pamidronate may prevent break down of bone tissue, decrease bone pain, and increase mobility.
What causes Sialidosis?
Sialidosis is caused by mutations of the NEU1 gene. This gene mutation is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.
What is the most common lysosomal storage disease?
Gaucher Disease Types I, II, and III: Gaucher disease is the most common type of lysosomal storage disorder. Researchers have identified three distinct types of Gaucher disease based upon the absence (type I) or presence and extent of (types II and III) neurological complications.
How is lysosomal storage disease treated?
The main treatment methods include Enzyme replacement therapy, Bone marrow transplantation, Substrate reduction therapy, use of molecular chaperones, and Gene therapy. This review article presents an elaborate description of these strategies and discusses the ongoing studies for the same.
How long do people live with cell disease?
Coarse facial features and skeletal abnormalities become more conspicuous with time. The life expectancy of children with this condition is poor, with death usually occurring around the fifth year.
What is Hurler’s syndrome?
Hurler syndrome is an inherited condition caused by a faulty gene. Children with Hurler syndrome lack an enzyme that the body needs to digest sugar. As a result, undigested sugar molecules build up in the body, causing progressive damage to the brain, heart, and other organs.
What causes Mucolipidosis?
What causes mucolipidosis II in children? Mucolipidosis II is caused by a mutation in a gene called GNPTAB, which results in the deficiency of the enzyme GlcNAc-1-phosphotransferase, which lysosomes require to properly break down large molecules inside the body’s cells.
What is Zellweger’s disease?
Zellweger syndrome is a genetic disorder passed from parents to children. It disturbs cellular function and causes serious problems soon after birth. Newborns can have brain, liver and kidney problems, as well as difficulty feeding or moving. There is no cure or treatment.
What happens when there is a lack of mannose-6-phosphate?
The lack of mannose-6-phosphate (M6P) causes lysosomal enzymes to be secreted extracellularly instead of being delivered to lysosomes. This causes problems in two ways: first, lysosomal enzymes are found at high levels in the bloodstream, and these destructive enzymes can in turn damage tissues.
Which is part of the lysosomal storage disease family?
Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). This enzyme transfers phosphate to mannose residues on specific proteins.
How is the endosome-lysosome system dysfunctional?
Each component of the endosome-lysosome system is a potential target for dysfunction leading to a dis- eased state (FIGURE 1). Lysosomal storage disorders comprise a group of more than 50 different genetic diseases (124). These disorders mostly involve the dysfunction of lysosomal hydrolases, which result in impaired substrate degradation.
What causes the dysfunction of the lysosomal hydrolases?
These disorders mostly involve the dysfunction of lysosomal hydrolases, which result in impaired substrate degradation. However, proteins involved in vesicular traffic and the biogenesis of lysosomes