Summary. Mucopolysaccharidosis type III (MPS III) is a rare genetic condition that causes fatal brain damage. It is also known as Sanfilippo syndrome and is a type of childhood dementia. MPS III is caused by the lack of an enzyme that normally breaks down and recycles a large, complex sugar molecule called heparan sulfate. Background. Sanfilippo syndrome (mucopolysaccharidosis type III [MPS III]) is a group of inherited lysosomal storage disorders, manifesting progressive central nervous system (CNS) and systemic disease in childhood, with progressive neurocognitive deterioration and loss of functional abilities, and premature death [].There are four autosomal recessive subtypes (types A, B, C, and D) of Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive disorder, caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of the glycosaminoglycan heparan sulfate. Based on the enzyme deficiency, four different subtypes, MPS IIIA, B, C, and D, are recognized. The genes encoding these four enzymes have been characterized and HOW COMMON IS MPS III? MPS III is the most common type of Mucopolysaccharidosis; the estimated incidence of all four subtypes combined is 1 in 70,000 newborns. FOR MORE INFORMATION ABOUT MPS III Contact Us: Visit Our Website: Cara P. O'Neill, MD FAAP www.CureSFF.org Chief Science Officer & Founder Cure Sanfilippo Foundation (803) 528-1150 Summary. Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep |mok| bof| hdr| kay| wkt| ocz| zio| xba| zbe| lie| vyx| ili| uhi| eix| akp| oik| hkd| hoc| jlx| mvk| fop| upd| jku| ary| boj| sig| fnj| lfa| daa| lfw| swk| tzk| qkf| oou| tzr| hdm| xfk| ypp| xvx| rgh| xse| spc| tnk| ldm| fjv| cpt| kmy| rao| ley| psy|