Welcome to Jack and Hunter’s site. Please take a minute to learn about MPS IVA also known as Morquio Syndrome. You can read the blog written by Jack and Hunter’s parents starting from the diagnosis and see how the family is coping with this syndrome and how Jack and Hunter are doing with their many doctors appointments, therapies, and daily living. Also check out the up coming fundraiser page to see if there are any events to attend to show your support and help donate for research to create a treatment or cure.
What is MPS?
Mucopolysaccharidoses (MPS) is a genetic lysosomal storage disease caused by the body’s inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials.
What is MPS IV?
Following definition is from National Organization of Rare Diseases www.rarediseases.org
“Morquio Syndrome (mucopolysacchridosis type IV; MPS IV) is a mucopolysacchride storage disease that exist in two forms (Morquio A and B) and occurs because of a deficiency of the enzymes n-acetyl-galactosamine-6-sulfatase and beta-galactosidase, respectively. A deficiency of either enzyme leads to a build of mucopolysaccharides in the body, abnormal skeletal development, and additional symptoms. In most cases, people with Morquio Syndrome have normal intelligence. The clinical features of MPS IV-B are usually fewer and milder than associated with MPS IV-A. Symptoms may include growth retardation, a prominent lower face, an abnormally short neck, knees that are abnormally close together (knock knees), flat feet, abnormal sideways and front to back or side to side curvature of the spine, abnormal development of the growing ends of the long bones, and/or a prominent breast bone. Hearing loss, weakness of legs, and/or additional abnormalities may occur.”