Sanfilippo syndrome
Genetic disorder / From Wikipedia, the free encyclopedia
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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. It is caused by a buildup of large sugar molecules called glycosaminoglycans (GAGs, or mucopolysaccharides) in the body's lysosomes.
Sanfilippo Syndrome (MPS III) | |
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Other names | Mucopolysaccharidosis III; MPS III |
12-year-old girl displaying characteristic facial features of Sanfilippo syndrome type A | |
Pronunciation | |
Specialty | Medical genetics |
Symptoms | Progressive physical disability; hyperactivity; dementia; loss of mobility |
Usual onset | Birth; symptoms usually become apparent between ages 2 and 6 |
Duration | Entire lifespan |
Types | Sanfilippo syndrome types A, B, C, and D |
Causes | Inherited enzyme deficiency |
Diagnostic method | MPS urine screen (typically the initial test), genetic testing, or blood enzyme assay[1] |
Differential diagnosis | Autism spectrum disorder[2] |
Prognosis | Lifespan is reduced; survival into adolescence or early adulthood |
Frequency | 1 in 70,000[3] |
Affected 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.[4] In early childhood, they begin to exhibit signs of developmental disability and loss of previously learned skills. In later stages of the disorder, they may develop seizures and movement disorders. Patients with Sanfilippo syndrome usually live into adolescence or early adulthood.[5]