Download What is Morquio A Syndrome

What is Morquio A Syndrome?
Morquio A is a rare inherited disease that affects major organ systems in the body. The disease is a
form of mucopolysaccharidosis, which is a type of lysosomal storage disorder.
People born with Morquio A can't break down glycosaminoglycans (GAGs) molecules because their
bodies don't make enough of an enzyme, or protein, called N-acetylgalactosamine-6 sulfatase
(GALNS). This enzyme breaks down or recycles materials the body can't use. When the body doesn't
produce enough of the enzyme, GAGs build up in tissues, bones, and major organs. GAGs cause
serious problems, including heart disease, skeletal abnormalities, vision and hearing loss, difficulty
breathing, and early death.
Even though Morquio A is serious, it's important to remember that the disease can affect people
differently. With proper treatment, people with Morquio A can live a long time — in some cases, just
as long as people who don't have Morquio A
DR. LUIS MORQUIO, a children's doctor in Uruguay, first described Morquio A in 1929.
That same year, Dr. James Brailsford, a radiology doctor in England, also described the
condition, which is why it's sometimes called Morquio-Brailsford syndrome.
Morquio A is a recessive inherited disease. This means that both parents must have a defective gene
in order for there to be a risk of passing Morquio A on to their children.
The genes we get from our parents determine most of our physical characteristics. Hair color, blood
type, gender, and eye color are all examples of inherited characteristics. But some health problems
can also be inherited.





Early Signs & Symptoms
The signs and symptoms of Morquio A are not usually
obvious at birth. By the age of 2 or 3 years, enough
KS has built up in the child's body to start causing
problems.
The first noticeable symptoms that usually show are
oddly shaped bones, knock knees, spine curvature,
and irregular chest growth. As the child gets older,
more serious symptoms will start to show up. In some
cases, symptoms can show up in children as young
as 6 months.
Tests/Diagnosis
Morquio A is a progressive disease, meaning that it will get worse over time. It's important to get an
early diagnosis in order to prevent further damage and to start treating the complications right away.
© 2013 BioMarin Pharmaceutical Inc. All rights reserved.