Mucopolysaccharidoses

What is Mucopolysaccharidoses?

Mucopolysaccharidoses refers to a group of inherited metabolic disorders. There are 7 specific genetic disorders within this group. The condition is progressive, and symptoms can vary significantly, even among individuals within the same family. Most individuals are diagnosed in either childhood or adolescence.

The Mucopolysaccharidoses group of disorders affects around 1 in 25,000 children a year.

Health conditions related to the syndrome may include heart and respiratory disease and severe sleep apnea. Enlarged organs are also a potential health complication in individuals with the syndrome. Shared characteristics of all mucopolysaccharidoses include growth and/or developmental delay, coarse facies, skeletal dysplasia, hernia, and corneal clouding.

What gene changes cause Mucopolysaccharidoses?

Individuals with Mucopolysaccharidoses either lack or have malfunctioning lysosomal enzymes. These enzymes are responsible for breaking down glycosaminoglycans, or complex carbohydrates within the body. When they are missing or malfunctioning, it leads to a build of carbohydrates in the cells, blood, brain, and spinal cord, leading to cellular damage.

Most mucopolysaccharidoses are autosomal recessive disorders. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Mucopolysaccharidoses?

The main symptoms of Mucopolysaccharidoses may vary between individuals and may also vary in the extent of their severity. The condition is progressive, and most individuals deteriorate over time in terms of their health condition.

Common symptoms in the early stages of diagnosis include frequent colds and growth and developmental delays. Typical facial features include a flat nasal bridge, thick lips, an enlarged mouth, and jaw. Dwarfism, dysplasia, and excess body hair are other possible symptoms.

How does someone get tested for Mucopolysaccharidoses?

The initial testing for Mucopolysaccharidoses may vary between individual can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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