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Mucopolysaccharidoses


Overview :

Mucopolysaccharides are long chains of sugar molecules that are essential for building the bones, cartilage, skin, tendons, and other tissues in the body. Normally, the human body continuously breaks down and builds mucopolysaccharides. Another name for mucopolysaccharides is glycosaminoglycans (GAGs). There are many different types of GAGs and specific GAGs are unable to be broken down in each of the MPS conditions. There are several enzymes involved in breaking down each GAG and a deficiency or absence of any of the essential enzymes can cause the GAG to not be broken down completely and result in its accumulation in the tissues and organs in the body. In some MPS conditions, in addition to the GAG being stored in the body, some of the incompletely broken down GAGs can leave the body via the urine. When too much GAG is stored, organs and tissues can be damaged or not function properly.

Genetic profile

Except for MPS II, the MPS conditions are inherited in an autosomal recessive manner. MPS conditions occur when both of an individual's genes that produce the specific enzyme contain a mutation, causing them to not work properly. When both genes do not work properly, either none or a reduced amount of the enzyme is produced. An individual with an autosomal recessive condition inherits one of those non-working genes from each parent. These parents are called "carriers" of the condition. When two people are known carriers for an autosomal recessive condition, they have a 25% chance with each pregnancy to have a child affected with the disease. Some individuals with MPS do have children of their own. Children of parents who have an autosomal recessive condition are all carriers of that condition. These children are not at risk to develop the condition unless the other parent is a carrier or affected with the same autosomal recessive condition.

Unlike the other MPS conditions, MPS II is inherited in an X-linked recessive manner. This means that the gene causing the condition is located on the X chromosome, one of the two sex chromosomes. Since a male has only one X chromosome, he will have the disease if the X chromosome inherited from his mother carries the defective gene. Females, because they have two X chromosomes, are called "carriers" of the condition if only one of their X chromosomes has the gene that causes the condition, while the other X chromosome does not.




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