WHAT ARE MPS AND RELATED DISEASES?
Mucopolysaccharide (pronounced "muke - o - polly - sack -are - ide") (MPS) and related diseases are lysosomal (pronounced "lie - so - so - mall") storage disorders (LSDs) caused by genetically inherited enzyme deficiencies. Because affected individuals lack particular enzymes necessary for normal cell degradation and recycling, substances store throughout their bodies, causing progressive damage to their hearts, bones, joints, respiratory systems and, sometimes, central nervous systems. While babies affected with MPS or related diseases often show no signs of disease, symptoms appear and intensify as storage increases.
HOW ARE MPS AND RELATED DISEASES INHERITED?
Lysosomal storage diseases are usually autosomal recessive disorders, inherited from healthy parents who have no idea they carry a common recessive gene: For carrier parents there is a one in four chance with every pregnancy that their child will inherit one recessive gene from each parent and suffer from the carried disease. MPS II (Hunter Syndrome) and Fabry Disease are x-linked recessive disorders, meaning they are transmitted by carrier mothers to her sons: For carrier mothers, there is a one in two chance of an x-linked disorder occurring in the birth of a son. Parents of an affected child have the option of prenatal testing to determine if their next child will be affected by the same disease, and should seek genetic counseling before planning to have additional children or to inquire about available carrier testing for their healthy children. The occurrence of MPS in the population is estimated to be one in 25,000 births.
WHAT ARE THE MAJOR CHARACTERISTICS OF MPS?
A wide spectrum of clinical involvement is seen in all MPS and related diseases ranging from onset of symptoms at birth leading to death in early childhood to later onset with a near normal life span. While specific enzyme deficiencies, and effects, vary from syndrome to syndrome, characteristics are often shared by individuals with MPS including: course facial features, short stature, corneal clouding, speech and hearing impairment, chronic runny nose and diarrhea, hernias, heart disease, bone disease, stiff joints, liver and spleen enlargement, hyperactivity, mental retardation, and shortened life expectancy.
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WHAT ARE 18 THINGS YOU SHOULD KNOW ABOUT GENETICS?
Click here to watch the video that won the 2011 Gene Screen Film Competition: "18 Things You Should Know About Genetics."
GLOSSARY OF MPS TERMS
Click here to download a glossary of terms relating to MPS.