Mucopolysaccharidosis Type IIIA (MPS3A)

What is Mucopolysaccharidosis Type IIIA (MPS3A)?

Mucopolysaccharidosis Type IIIA is a rare genetic metabolic disorder. It is often also referred to as Sanfilippo syndrome.

The disease usually presents itself post infancy in early childhood, and a major symptom is a developmental regression.

The disease is progressive and affects, over time, the brain and spinal cord.

What gene changes cause Mucopolysaccharidosis Type IIIA (MPS3A)?

The syndrome caused by mutations on the following genes: GNS, HGSNAT, NAGLV, SGSH.

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. It is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Mucopolysaccharidosis Type IIIA (MPS3A)?

Symptoms of the syndrome included delayed and regressive speech development and behavior problems. Many individuals are also diagnosed with an autism spectrum disorder. Other symptoms may include issues with sleep, seizures, chronic diarrhea, and an umbilical or inguinal hernia. A slightly enlarged liver is also often a symptom.

Physical features of the syndrome include a large head, and issues with both hearing and vision.

How does someone get tested for Mucopolysaccharidosis Type IIIA (MPS3A)?

The initial testing for Mucopolysaccharidosis Type IIIA 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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