Mucopolysaccharidosis Type IVA (MPS4A)

What is Mucopolysaccharidosis Type IVA (MPS4A)?

Mucopolysaccharidosis, Type IVA; MPS4A is a rare genetic metabolic disorder. It is often also referred to as Morquio syndrome.

The disease may present at birth or later age. The syndrome is progressive but may develop at either a slow or fast rate depending on the type the individual develops.

What gene changes cause Mucopolysaccharidosis Type IVA (MPS4A)?

The syndrome is a lysosomal storage disease caused by mutations in the GALNS gene. It is inherited in an autosomal recessive pattern.

The disease affects 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.

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 IVA (MPS4A)?

Symptoms of the syndrome included enlarged and scarred tissues and organs.

Other possible health conditions related to the syndrome include skeletal abnormalities and short stature and hearing loss, and problems relating to the eyes. Hyper flexible joints often present as a symptom.

Physical features of the syndrome include short stature, knock knees, and low muscle tone.

How does someone get tested for Mucopolysaccharidosis Type IVA (MPS4A)?

The initial testing for Mucopolysaccharidosis, Type IVA 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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