Paula and Bobby
Parents of Lillie
Mucopolysaccharidosis Type VI (MPS6)
What is Mucopolysaccharidosis Type VI (MPS6)?
Mucopolysaccharidosis Type VI; MPS6 is a rare genetic disorder and lysosomal storage disease. It is often also referred to as Maroteaux-Lamy Syndrome.
The disease may present at birth or later age. The syndrome is progressive but may progress at either a slow or fast rate depending on the type the individual develops.
What gene changes cause Mucopolysaccharidosis Type VI (MPS6)?
The syndrome is a lysosomal storage disease caused by a deficiency of arylsulfatase B (ASB) caused by mutations in the ARSB gene on chromosome 5. 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 VI (MPS6)?
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, failure to thrive, and possible cardiac and pulmonary diseases.
The syndrome's physical features include a broad, flat nose bridge, prominent forehead, coarse facial features, and a thick lower lip.
Clouding of the cornea is a fairly common syndrome, as is degenerative joint disease.
How does someone get tested for Mucopolysaccharidosis Type VI (MPS6)?
The initial testing for Mucopolysaccharidosis Type VI 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.
What is FDNA Telehealth?
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