Mucopolysaccharidosis type III (Sanfilippo syndrome types A, B, C and D)
Autozomálně recesivní
Deficiency of one of four enzymes that break down heparan sulfate (SGSH in type A, NAGLU in type B, HGSNAT in type C, GNS in type D) causes speech delay, hyperactivity, sleep problems and progressive loss of skills in childhood.
Co se diagnózou změní
There is no approved disease-modifying therapy yet; a genetic diagnosis guides supportive care, family testing and eligibility for clinical trials.
Známé také jako
heparan sulphate sulfatase deficiency; MPS3; MPSIII; Mucopoly-saccharidosis type 3; Mucopolysaccharidosis Type III; Sanfilippo disease; Sanfilippo syndrome
Zahrnuje 4 příbuzných podtypů ↓Skrýt podtypy ↑
- mucopolysaccharidosis type 3A
- mucopolysaccharidosis type 3B
- mucopolysaccharidosis type 3C
- mucopolysaccharidosis type 3D
