What is Mucolipidosis Type IV?
What is Mucolipidosis Type IV?
Mucolipidosis IV is a rare metabolic disorder characterized by intellectual disability; severe impairment in the acquisition of skills requiring the coordination of muscular and mental activities (psychomotor retardation); diminished muscle tone (hypotonia); clouding (opacity) of the clear portion of the eyes through …
What does Mucolipidosis mean?
Definition. 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.
How common is Mucolipidosis?
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.
What is Mucolipidosis III gamma?
Mucolipidosis III gamma is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3. Individuals with mucolipidosis III gamma grow slowly and have short stature.
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 Mucolipidosis Type III?
Mucolipidosis III (ML III) is a rare, inherited disorder that is progressive in nature and affects many of the body’s systems. It is one of many diseases classified as a lysosomal storage disorder (LSD). In these disorders, genetic variations disrupt the normal activity of lysosomes in human cells.
What is Hunter syndrome?
Hunter syndrome is a rare, inherited disorder in which the body does not properly digest (break down) sugar molecules in the body. When these molecules build up in organs and tissues over time, they can cause damage that affects physical and mental development and abilities. The disorder almost always occurs in boys.
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.
Is there such a thing as mucolipidosis type IV?
See the equivalent section in the main mucolipidosis article. Mucolipidosis type IV is severely under-diagnosed. It is often misdiagnosed as cerebral palsy. In the Ashkenazi Jewish population there are two severe mutations with a higher carrier frequency of 1:90 to 1:100.
How does mucolipidosis IV cause iron deficiency anemia?
Individuals with mucolipidosis IV develop iron deficiency anemia because their stomachs do not secrete acid. They do not have enlarged livers or spleens, skeletal involvement, or mucopolysaccharides in the urine.
When do you know if you have mucolipidosis?
The first recognized symptoms are usually clouding (opacity) of the cornea and eye movement abnormalities. In some cases, these symptoms may be overlooked until three to five years of age.
Where are mutations in mucolipin1 located in the body?
Mucolipin1 is thought to be localized in endosomes. An important property of mucolipin1 is that decreasing pH (acidification) results in deactivation of the protein, likely through an assembly defect. There are at least 29 known mutations in MCOLN1, located throughout the gene.