![]() The disease progresses to increasing behavioral disturbance including temper tantrums, hyperactivity, destructiveness, aggressive behavior, pica, difficulties with toilet training, and sleep disturbance. Acquisition of speech is often slow and incomplete. ![]() Of all of the MPS diseases, Sanfilippo syndrome produces the fewest physical abnormalities.Īfter an initial symptom-free interval, patients usually present with a slowing of development and/or behavioral problems, followed by progressive intellectual decline resulting in severe dementia and progressive motor disease. ![]() Affected infants appear normal, although some mild facial dysmorphism may be noticeable. Symptoms usually begin to appear between two and six years of age. Patients with Sanfilippo syndrome usually live into adolescence or early adulthood. In later stages of the disorder, they may develop seizures and movement disorders. In early childhood, they begin to develop developmental disability and loss of previously learned skills. It is caused by a buildup of large sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides) in the body's lysosomes.Īffected children generally do not show any signs or symptoms at birth, although some early indicators can be respiratory issues at birth, large head size, and umbilical hernia. Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. Lifespan is reduced survival into adolescence or early adulthood MPS urine screen (typically the initial test), genetic testing, or blood enzyme assay Progressive intellectual disability hyperactivity dementia loss of mobilityīirth symptoms usually become apparent between ages 2 and 6
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