Page 1

Information About Mucolipidosis The disease known as mucolipidosis is a type of metabolic disorder that is inherited from one’s parents. The disease has a great effect on the cell’s normal ability to turnover its contents. Today, the name is more of a broad spectrum and represents four different classifications o the disease. These four different types are known rather simply as I, II, III and IV. Type I is usually referred to as glycoprotinosis and type IV is often referred to as gangliosidosis.

Type I

This type of the disease affects the glycoprotein’s and is the direct result of the lysosomal not working in the proper manner. Within this type of the disease, there are a further two types that have effects on the enzymes and will degrade the glycoprotein’s in the body.

Type 2

Type 2 is often referred to as an I-cell disease and causes a lack of proteins inside the cells. Symptoms begin to develop around the age of 6 months. Children that develop the disease will not develop correctly. Often times, hands will not fully develop and the baby will not grow normally. Dwarfism is common, and the children will often not live past their seventh birthday.

Type 3

This type of the disease is also sometimes referred to as Pseudo-Hurler polydystyophy. This is because it loosely resembles Hurler syndrome and shares some symptoms. Unlike Type 2, the disease will often not be detected until the child is around 3 years of age. The children will have skeletons that do not develop correctly and will have organs of abnormal sizes. Death can occur at an early age, however patients are known to live well into their 60s.However, there is no currently known cure.

Type 4

Type 4 occurs when there is a problem with storing lipids in the body. Within this type of the disease there are a further two types that are known as GM1 and GM2.

The Genetics

Children will only inherit the disease when both of their parents are also carriers of it. In this way, it is a recessive disorder. If both parents carry the defective gene, there is a 25% chance that their offspring will develop the disease. The risk is accordingly amplified if one of the parents actually has the disease, or if both suffer from it. If the child does not actually develop mucolipidosis, there is still a 50% chance that they will develop the defective genes and risk passing it on to future offspring. In this way, they will live otherwise healthy lives however they will be a carrier of the disease. Tests are available to those with parents that have the genes to see if they carry the disease and run the risk with their future children. The disease is usually diagnosed at an early age by doctors. Generally is it based entirely on the symptoms that the child is showing as well as through a variety of different tests that are available at testing facilities. Finally, the parent’s medical history can be used to determine the cause of any issues that arise in the child’s development.

Information about mucolipidosis  

The disease known as mucolipidosis is a type of metabolic disorder that is inherited from one’s parents. Visit: