Mucopolysaccharidosis Type 2 (MPS2)

What is Mucopolysaccharidosis Type 2 (MPS2)?

Mucopolysaccharidosis Type 2 is a progressive genetic disorder. Children born with the syndrome are usually healthy at birth, and symptoms usually develop from the age of 2 years or slightly older. The disease has two types- severe and mild with varying degrees of symptoms between the types.

The disorder is rare and occurs in anywhere between 1 in 100-170,00 live births. Due to the way in which it is inherited, it affects mainly males.

What gene changes cause Mucopolysaccharidosis Type 2 (MPS2)?

The syndrome is a lysosomal storage disease affecting the body's ability to break down the large sugar molecules known as glycosaminoglycans. The buildup of these molecules in the body tissue triggers the symptoms of the syndrome.

The disease is an X-linked recessive disorder and affects mainly males. Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

What are the main symptoms of Mucopolysaccharidosis Type 2 (MPS2)?

Symptoms of the syndrome usually present post infancy and from the age of 2-4 years. Children who appeared to be developing typically will start to present with various symptoms depending on whether they have the mild or severe type of the disease. Intellectual disability tends only to affect those individuals with the severe type of the condition.

The syndrome's physical features include a large head, thick skin and lips, a broad nose, flared nostrils, protruding tongue, and a deep, hoarse voice. Hydrocephalus, or fluid on the brain, is another major symptom, as is a distended stomach due to the enlargement of internal organs and abdominal herniae. Individuals tend to experience a slow down in their growth from the age of five years.

Other possible health conditions related to the syndrome include skeletal abnormalities related to a thickening of the bones, an enlargement of internal body organs including the spleen and liver, hernias, frequent respiratory infections, carpal tunnel syndrome, and heart valve abnormalities.

How does someone get tested for Mucopolysaccharidosis Type 2 (MPS2)?

The initial testing for Mucopolysaccharidosis Type 2 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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