Page 1

Is Mucolipidoisis Genetic? The term "mucolipidosis" refers to a set of inherited disorders of the metabolism that influence the body's turnover of a variety of materials at the cellular level. Four different types of disorder fall under this umbrella. All four of the ML types pass from one generation to the next in what is known as an autosomal recessive process. This means that a child has to receive a copy of the gene with the defect from each parents. "Carrier" parents can have a defective gene along with a normal gene without showing any symptoms, because it is necessary to have two defective genes for the condition to manifest. This means that "carrier" parents can have as high as a 1 in 4 chance of having a child with one of the four forms of mucolipidosis. Parents who have no defective genes are not considered carriers, as they have no possibility of passing the condition on to their children. Because geneticists have identified the specific genes that are involved in all four of the mucolipidosis forms, genetic testing can point out parents who are carriers. If you wonder whether you or one of your children suffers from one of the types of ML, there are several different ways to find out. First comes a thorough medical history. If you have one of the first three types (I, II or III), a blood test is available that measures the activity of enzymes in your white blood cells. If your activity levels are not as high as normal levels are, you may have particular deficiencies at the enzyme level. Skin biopsy is another method for determining whether or not you have ML. The medical staff takes a small skin sample and grows it within a cell culture in order to measure the presence of a specific enzyme in the cultured cells. To test for ML IV, the practitioner just needs to swab cells conjunctivally and test them for inclusions. Also, gastrin levels in the blood elevate significantly in patients with ML IV, and so blood testing is a helpful tool for confirming the diagnosis. In prenatal cases, it is also possible to screen for ML through CVS (chorionic villus sampling). This takes place between weeks 8 and 10 of pregnancy and involves the removal and examination of a tiny part of the placenta. Practitioners looking for types I, II and III grow amniocytes in culture and then test them for enzyme levels. For ML IV, practitioners get genetic information right from the amniocytes and analyze it for mutations that match consistencies with ML IV. This method is known as genotyping. While genetic testing is sometimes a matter of controversy, it is often valuable to know the challenges that face a family after the birth of a child. Genetic counselors can share with parents how ML is inherited, and the challenges that face a family with an ML child. If you find out that you and your spouse both have a defective gene before you have a child, you can choose whether to adopt or to risk having a child with the disorder. Because there is currently no cure or known successful therapy other than managing symptoms and supporting the child, this is a challenge that will affect a child's quality of life from beginning to end. This means that having as much information beforehand has significant value. Find out more information on the link below: Mucolipidosis.

Is mucolipidoisis genetic  

The term "mucolipidosis" refers to a set of inherited disorders of the metabolism that influence the body's turnover of a variety of materia...