What are the mucolipidoses? The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body's ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells.
Early symptoms can include skeletal abnormalities, vision problems and developmental delays. Over time, many children with ML develop poor mental capacities, have difficulty reaching normal developmental milestones, and, in many cases, eventually die of the disease.
Mucolipidosis II alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide.
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.
Mucolipidosis IV is an inherited lysosomal storage disorder caused by mutations in the MCOLN1 gene. Individuals with mucolipidosis IV lack an enzyme called mucolipin-1, which is important for the proper functioning of lysosomes, the digestive system of the cell, though its exact function is not fully understood.
The mucolipidoses are inherited in an autosomal recessive manner, that is, they occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs.
Mucolipidosis IV is inherited as an autosomal recessive genetic trait and caused by mutations in the MCOLN1 gene.
Heart disease and complications of pneumonia are the major causes of death. There is no current cure for I Cell Disease. Treatment is supportive. Bone marrow transplantation may be used to delay or correct neurological deterioration.
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-cell disease is inherited as an autosomal recessive genetic 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.
None of the symptoms of fragile X syndrome are life-threatening, so the life expectancy for someone with fragile X syndrome is the same as for the average person.
Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures.
It first was described in 1967 by Leroy and DeMars when they reported a patient with clinical and radiographic features similar to those of Hurler syndrome (mucopolysaccharidoses 1H [MPS 1H]) but with an earlier onset of symptoms and no evidence of mucopolysacchariduria.
Consequently, lysosomes lack the requisite hydrolytic enzymes needed for catabolism of cellular debris, so this debris accumulates within them and forms the characteristic intracellular inclusions (hence the name of the disorder).
What are the mucopolysaccharidoses? The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes the body needs to break down molecules called glycosaminoglycans—long chains of sugars (carbohydrates) in each of our cells.
Disease at a Glance
Symptoms typically present in infancy or early childhood and include weak muscle tone (hypotonia), developmental delay, limited mobility, clubfeet, thickened skin, and short hands and fingers. ML II can also cause heart valve abnormalities and repeated respiratory infections.
It is becoming increasingly clear that dysregulation of cell cycle and cell death processes plays an important role in the development of major disorders such as cancer, cardiovascular disease, infection, inflammation and neurodegenerative diseases.
Cellular mechanisms of Cancer, Alzheimer's, aniridia, lysosomal storage disease, Chagas disease, alcoholism and addiction, schistosomiasis, immunopathology.
Malfunctioning mitochondria have been linked to diabetes, heart disease, Alzheimer's disease, Parkinson's disease and even normal aging.
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.
Stem cell or bone marrow transplants are the only cure for sickle cell disease, but they're not done very often because of the significant risks involved. Stem cells are special cells produced by bone marrow, a spongy tissue found in the centre of some bones. They can turn into different types of blood cells.
There's no cure for most people with sickle cell anemia. Treatments can relieve pain and help prevent complications associated with the disease.
Most leukodystrophies come from parents passing the genes to their children (inherited). But sometimes gene mutations happen suddenly as cells grow and divide. You can have a mutated leukodystrophy gene without developing the disease. This means you're a carrier.
Mucolipidosis III gamma (ML IIIγ) is a slowly progressive inborn error of metabolism mainly affecting skeletal, joint, and connective tissues. Clinical onset is in early childhood and the progressive course, including mild cardiac involvement, results in severe functional impairment and significant morbidity.
Listen to pronunciation. (… SIN-drome) A rare, inherited disorder marked by shorter than average height, a narrow face, a red skin rash that occurs on sun-exposed areas of the body, and an increased risk of cancer.