MPS disease type 7 is a rare inherited disorder which is classified as a lysosomal storage disorder in which a genetic variation disrupts the normal activity of lysosomes in human cells.
MPS disease type 7 is also known as Sly syndrome or mucopolysarcharidosis type VII (MPS VII).
MPS Type 4 disease is a mucopolysaccharide storage disease that exists in two forms (MPS IVA and MPS IVB).
They are autosomal recessive genetic conditions that comprise a continuum consisting of a severe form with rapid progression and another slowly progressing form.
Left untreated, MPS IVA patients do not generally survive beyond the third decade of life; with appropriate management, patients may survive beyond the age of 50 with some surviving over 70 years of age.
MPS type 3 syndrome is a rare genetic condition that causes fatal brain damage.
The MPS type 3 syndrome is also known as mucopolysaccharidosis type III (MPS III) or Sanfilippo syndrome and is a type of childhood dementia.
MPS type 3 syndrome is caused by a lack of an enzyme that normally breaks down and recycles heparan sulfate which is a large, complex sugar molecule.
Early signs and symptoms of MPS type 3 syndrome include frequent ear and throat infections or bowel problems, though most common are mild developmental delay or delayed speech.
Behavioral problems often worsen with affected children becoming restless, hyperactive, destructive, anxious, impulsive, fearless, or aggressive.
Those with MPS VI experience normal growth at first but growth stops suddenly around age 8.
Skeletal changes get worse over time and limit mobility.
People with MPS VI begin to show symptoms during early childhood.
Life expectancy of people with MPS type 3 syndrome depends on disease severity and is typically around 20-30 years of age.
There is no cure for MPS type 3 syndrome and no current approved treatment.
Enzyme replacement therapy (ERT) has not been shown to be effective in MPS III.
Those who are less severely affected by MPS VI may only experience a mild change in their facial appearance as a result of the disease.
Others, who are more severely affected by the disease will have a short neck, cheeks that are chubby and the nose may be broad with a flattened bridge and upturned nostrils.
Despite early language development, children with Sanfilippo syndrome usually have delayed speech.
Many children have imprecise articulation.
Some children may not develop speech at all.