Individuals with Mucolipidosis IV are usually cross-eyed, like to avoid light, and have puffy eyelids. It is not known approximately how may Ashkenazi Jews are carriers. Carriers do not have the disease but are capable of passing it on to their children if the other parent is also a carrier. Mucolipidosis IV is an inherited condition, which means that it is passed from parents to their children. An individual with Mucolipidosis IV has inherited two changed copies of a particular gene, one from each parent.
Genes are our body s instructions on how to develop and function.
They are located on the structures in our cells called chromosomes. We inherit one set of chromosomes from each of our parents, and therefore chromosomes, and the genes located on them, come in pairs. Carriers do not show any symptoms of the disease and usually have no health problems related to Mucolipidosis IV, but they are capable of passing the copy of the gene that does not function properly on to their children. Currently, therefore, genetic testing is now available to diagnose Mucolipidosis IV, and prenatal diagnosis is also possible. Carriers of Mucolipidosis IV can be identified with the same genetic testing that identifies individuals who are affected with the disorder.