MPS stands for Mucopolysaccharidoses, a group of inherited metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes required to break down glycosaminoglycans (GAGs), previously known as mucopolysaccharides. These long chains of sugar molecules are found throughout the body in connective tissues. When the enzymes are defective or missing, GAGs accumulate in cells, blood, and connective tissues, leading to a variety of health problems.
Hurler Syndrome is the severe form of MPS I. Symptoms may include developmental delays, progressive intellectual disability, skeletal abnormalities, enlarged liver and spleen, heart valve abnormalities, and distinctive facial features. Without treatment, life expectancy is significantly reduced. Less severe forms of MPS I include Hurler-Scheie Syndrome and Scheie Syndrome
Hunter Syndrome primarily affects males due to an X-linked recessive inheritance pattern. Symptoms include skeletal deformities, joint stiffness, coarse facial features, enlarged organs, developmental delays, and cognitive impairment. Severity varies widely among affected individuals. Without treatment, life expectancy is dramatically reduced.
Sanfilippo Syndrome is characterized by severe neurological deterioration. Symptoms typically begin in early childhood and may include developmental regression, hyperactivity, sleep disturbances, aggressive behavior, and progressive intellectual disability. Physical symptoms may also manifest, such as coarse facial features and joint stiffness. Life expectancy is significantly reduced, with most individuals not surviving beyond their teens or early adulthood. Different types of MPS III include subtypes A, B, C, and D
Morquio Syndrome presents with skeletal abnormalities, including short stature, abnormal development of the spine, and deformities of the chest and ribs. Individuals may also experience joint laxity, which can lead to joint pain and mobility issues. Unlike other forms of MPS, Morquio Syndrome does not typically involve intellectual impairment. Life expectancy varies, with some individuals surviving into adulthood with appropriate medical care. Different types of MPS IV include subtypes A and B.
Maroteaux-Lamy Syndrome is characterized by skeletal abnormalities, including short stature, joint stiffness, and progressive deformities. Individuals may also experience corneal clouding, which can lead to vision impairment. Unlike some other MPS types, cognitive function is typically unaffected. Life expectancy can vary, with some individuals surviving into adulthood with appropriate medical care.
Sly Syndrome is characterized by skeletal abnormalities, joint stiffness, enlarged liver and spleen, and developmental delays. Corneal clouding and heart valve abnormalities may also occur. Intellectual impairment can vary from mild to severe. Without treatment, life expectancy is reduced, with most individuals not surviving beyond their teens or early adulthood.
Each type of MPS presents unique challenges and symptoms, with varying impacts on life expectancy. Comprehensive management and support are essential to improving the quality of life for affected individuals and their families. Ongoing research and advocacy efforts are crucial in advancing understanding, treatment options, and ultimately, finding a cure for each type of MPS.
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