The definitive diagnosis of an MPS is made using a biochemical test that measures the specific enzyme (known to be reduced or absent) in the individual's tissues or bodily fluids. Genetic testing may also be used to confirm a suspected diagnosis
The MPS syndromes are considered to be rare. Sanfilippo syndrome appears to be the most common MPS with a reported incidence of one in 70,000.
common features include enlarged organs (organomegaly), dysostosis multiplex (abnormal bone formation), and a characteristic facial appearance
Common features of mucopolysaccharidoses include progressive skeletal abnormalities, joint stiffness, coarse facial features, intellectual disability, organ enlargement, and cardiovascular complications. These are due to the accumulation of glycosaminoglycans in tissues throughout the body. Treatment options typically focus on managing symptoms and providing supportive care.
The MPS disorders are caused by absent or insufficient production of proteins known as lysosomal enzymes The specific enzyme that is deficient or absent distinguishes one type of MPS from another
That is the correct spelling of the word "diagnosed".
probably under-diagnosed.
Diagnosed means that you find a cure for something.
Diagnosed means that you find a cure for something.
What disease was Nick diagnosed with? Diabetes.
He was never diagnosed with AIDS.
it was first diagnosed in 1968
A fever is usually diagnosed using a thermometer.