Sanfilippo Syndrome synonyms

Sanfilippo Syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare genetic disorder that belongs to a group of diseases called lysosomal storage disorders. It is characterized by the body's inability to properly break down certain molecules called glycosaminoglycans (GAGs), leading to their accumulation in cells and tissues throughout the body.

There are four subtypes of Sanfilippo Syndrome, each caused by a different enzyme deficiency:

• Sanfilippo Syndrome Type A (MPS IIIA) - caused by a deficiency of the enzyme heparan N-sulfatase


• Sanfilippo Syndrome Type B (MPS IIIB) - caused by a deficiency of the enzyme alpha-N-acetylglucosaminidase


• Sanfilippo Syndrome Type C (MPS IIIC) - caused by a deficiency of the enzyme acetyl-CoA alpha-glucosaminide acetyltransferase


• Sanfilippo Syndrome Type D (MPS IIID) - caused by a deficiency of the enzyme N-acetylglucosamine 6-sulfatase

Common symptoms of Sanfilippo Syndrome include developmental delay, progressive intellectual disability, hyperactivity, sleep disturbances, speech impairment, and behavioral problems. Physical features such as coarse facial features, enlarged liver and spleen, and skeletal abnormalities may also be present.

Sanfilippo Syndrome is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for the disorder to be passed on to their child. It affects both males and females of all ethnic backgrounds.

Currently, there is no cure for Sanfilippo Syndrome. Treatment focuses on managing symptoms and improving the quality of life for affected individuals. This may involve supportive care, physical and occupational therapy, medications to manage specific symptoms, and in some cases, experimental therapies.

It is important for individuals with Sanfilippo Syndrome to receive comprehensive medical care from a multidisciplinary team of specialists, including geneticists, neurologists, and other healthcare professionals.