A form of mucopolysaccharidosis with the clinical
onset before age 3 that is characterized by an inability to metabolize dermatan
sulfate. This leads to abnormal accumulation of dermatan sulfate, resulting in mild
to severe changes in muscle, bone , skin, and other tissues, particularly the heart.
Diagnosis is by examining leukocytes and cultured skin fibroblasts, or 24-hour urine
collection to search for high levels of dermatan sulfate. There is no current treatment
for the syndrome, but individual symptoms and problems may respond to physical therapy,
medication, or surgery. Due to heart damage, death usually occurs before age 40.
Also known as mucopolysaccharidosis type VI.
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