Morquio A: it’s inherited and progressive.
Morquio A is a recessively inherited condition. That means that both parents must have the defective gene in order to risk passing Morquio A on to their children.
Our genes are what determine most of our physical characteristics. That includes things like our hair color, blood type, and eye color. Genes are also responsible for some kinds of health problems, such as Morquio A.
When 2 parents who are carriers have a child, there is a 25% chance (1 in 4) that the child will have Morquio A.
People who have Morquio A can’t make an important enzyme that is a key part of clearing out materials from cells. The name of this enzyme is N-acetylgalactosamine-6 sulfatase, or GALNS for short.
GALNS enzymes break down a type of cellular molecule called a glycosaminoglycan (GAG). When GAG molecules are not broken down, they build up in the parts of the cell called the lysosomes that are in charge of breaking down materials.
In people with Morquio A, certain GAGs build up in lysosomes of cells throughout the tissues and organs of the body. This buildup can cause potentially serious problems, including heart disease, skeletal abnormalities, vision and hearing loss, and difficulty breathing. It can also limit your endurance, making it harder to move around and complete your daily activities.
A progressive condition gets worse over time. Morquio A is a progressive condition, which means that it gets worse as time goes on. The recently published “International Guidelines for the Management and Treatment of Morquio A Syndrome” highlight the importance of getting an early diagnosis to be able to start taking an enzyme replacement therapy as soon as possible. Spotting the signs and symptoms of Morquio A can help lead to a diagnosis.
Questions? Find out more at Morquiosity.com.