How are glycosaminoglycans broken down in mucopolysaccharidoses?

The mucopolysaccharidoses are a group of inherited metabolic diseases caused by the absence or malfunctioning of certain enzymes the body needs to break down molecules called glycosaminoglycans—long chains of sugars (carbohydrates) in each of our cells. These cells help build bone, cartilage, tendons, corneas, skin, and connective tissue.

How is mucopolysaccharidosis type I ( MPS I ) inherited?

[1] [3] Mucopolysaccharidosis type I (MPS I) is inherited in an autosomal recessive manner. [1] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier.

What are the signs and symptoms of mucopolysaccharidosis?

Seven distinct forms and numerous subtypes of mucopolysaccharidosis have been identified. Associated signs and symptoms and the severity of the condition vary significantly by form. In general, most affected people appear healthy at birth and experience a period of normal development, followed by a decline in physical and/or mental function.

Can a mucopolysaccharidoses carry on to their own children?

Unaffected siblings and select relatives of a child with one of the mucopolysaccharidoses may carry one copy of the defective gene and could pass it on to their own children. (The one exception is MPS II, or Hunter syndrome, which is an X-linked recessive disorder. In MPS ll, the mother alone passes along the defective gene to a son.)

How are mucolipidosis and mucopolysaccharidoses alike and different?

Individuals with mucolipidosis may share some of the clinical features associated with the mucopolysaccharidoses (certain facial features, bony structure abnormalities, and damage to the brain). Who is at risk?

How is the mucopolysaccharidoses ( MPS ) disease diagnosed?

How are the mucopolysaccharidoses diagnosed? Clinical examination and tests to detect excess excretion of mucopolysaccharides in the urine are the first steps in the diagnosis of an MPS disease. Enzyme assays (testing a variety of cells or blood in culture for enzyme deficiency) are needed to provide definitive diagnosis.