SYMPTOMS & EFFECTS

MPS Diseases

A baby with MPS 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.

The mucopolysaccharide storage disorders are progressive and vary widely in severity. All MPS children tend to have coarse facial features. All of them have, in some degree, skeletal involvement. In most children this involves joint changes with limitation of movement. In all of the MPS disorders, multiple organs are involved. Several children have clouding of the cornea which leads to vision impairment. Enlargement of the liver and spleen and involvement of the heart and blood vessels are frequent symptoms.

Progressive neurological decline is present in some children, as well as umbilical and groin hernias, stunted growth, fluid on the brain, thickened skin, excessive hair growth, chronic runny nose, chronic ear infections causing hearing loss, and a projected life expectancy of ten to twenty years.

Detailed information on MPS I, MPS II, MPS III, MPS IV and MPS VI is included in our new (2013) MPS syndrome-specific booklets; all booklets are available for purchase through our online store

Mucolipidoses

In the Mucolipidoses (ML) class, all of the mucopolysaccharide enzymes are present, but in most cases the enzymes continually leak out of the cell. As a result, the mucopolysaccharides are not completely broken down. The lysosomal enzymes in the ML disorders lack a phosphate group which is necessary for directing the enzymes into the lysosomes. Therefore, the mucopolysaccharide and lipid materials accumulate in the cells and tissues.

The ML disorders have symptoms including coarse facial features, stiff joints, stunted growth, heart murmurs and mental retardation ranging from mild to severe. Some of those affected with ML experience clouding of the cornea, enlarged liver and spleen, and ear infections. These diseases, like MPS, are progressive.