Mucopolysaccharidosis Type IIID (MPS3D)

What is Mucopolysaccharidosis Type IIID (MPS3D)?

Mucopolysaccharidosis Type IIID is a rare genetic metabolic disorder. It is often also referred to as Sanfillipo D.

The disease usually presents itself post infancy, in early childhood anywhere between the ages of 2 and 6 years old.

A major defining symptom of this rare disease is global developmental delay and neurological deterioration.

What gene changes cause Mucopolysaccharidosis Type IIID (MPS3D)?

The syndrome is a lysosomal storage disease caused by a missing or deficient enzyme that is responsible for breaking down the large sugar molecule heparan sulfate. 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 IIID (MPS3D)?

Symptoms of the syndrome included aggressive behaviour, developmental delay and intellectual disability. Hyperactivity, seizures and an inability to sleep for more than a few hours at a time are also common symptoms.

Physical features of the syndrome include an upturned nasal tip, low-set ears, hearing loss and problems with vision.

How does someone get tested for Mucopolysaccharidosis Type IIID (MPS3D)?

The initial testing for Mucopolysaccharidosis Type IIID 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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