|Birth||Postnatal||Childhood Illness||Glossary A-Z|
Mucopolysaccharidoses (MPs) are severe genetic disorders
in children and adults. They involve an abnormal storage of mucopolysaccharides
(long molecular chains of sugar, used by the body in the building of connective
tissues ), caused by the absence of a specific enzyme. Without the
enzyme, the breakdown process of mucopolysaccharides is incomplete. Partially
broken down mucopolysaccharides accumulate in the body's cells and tissues.
The storage process affects the children's appearances, bodily functions
and development. MPs children tend to look alike and to have very similar
health problems. The MPs diseases are classified as lysosomal storage
For a list of all MPs disorders and their common abbreviations, click here .
Symptoms and Signs
An MPs baby appears normal at birth and seems to develop
normally for about the first year or more depending on which MPs type
the child is affected with. The first signs can vary and are evident at
different ages in affected children. Symptoms that usually prompt medical
attention are ear infections, runny noses and colds.
Diagnosis and Treatment
A doctor bases the diagnosis on the symptoms. Mucopolysaccharidoses
can also be diagnosed before birth using amniocentesis
or chorionic villus
sampling , in which samples are removed and screened for abnormal enzyme
activity. Following birth, the child's urine can be screened, which, along
with blood and other tests, can identify the presence of excess mucopolysaccharides.
X-rays can also be used to look for bone abnormalities.
The information in this page is presented in summarised form and has been taken
from the following source(s):
|http://www.hon.ch/Dossier/MotherChild/child_musculoskeletal/muscoskel_mucopolys.html||Last modified: Jun 25 2002|