Clinical Information

Mucopolysaccharidosis III (MPS III; Sanfilippo syndrome) is caused by reduced or absent activity of 1 of 4 enzymes involved in heparan sulfate degradation. Patients with MPS III uniformly excrete heparan sulfate resulting in similar clinical phenotypes and are further classified as type A, B, C, or D based upon the specific enzyme deficiency. MPS III is characterized by severe central nervous system (CNS) degeneration but only mild physical disease. Such disproportionate involvement of the CNS is unique among the MPS. Onset of clinical features, most commonly behavioral problems and delayed development, usually occurs between 2 and 6 years of age in a child who previously appeared normal. Severe neurologic degeneration occurs in most patients by 6 to 10 years of age accompanied by a rapid deterioration of social and adaptive skills with death generally occurring by their 20s. The occurrence of MPS III varies by subtype with types A and B being the most common and types C and D being very rare. The collective incidence is approximately 1 in 58,000 live births. This assay detects all MPSIII types (MPS IIIA, IIIB, IIIC, and IIID).

A diagnostic workup for MPS typically also includes GAG determination in urine (MPSQU / Mucopolysaccharides Quantitative, Random, Urine) or blood (MPSBS / Mucopolysaccharidosis, Blood Spot, or MPSER / Mucopolysaccharides Quantitative, Serum) and molecular genetic analysis of the relevant gene(s). For MPS III, a molecular panel is available that includes SGSH, NAGLU, GNS, HGSNAT (CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies; specify Gene List ID: IEMCP-7YM613).