Sanfilippo syndrome: Overall review

Area of Science:

• Biochemistry
• Genetics
• Pediatric Neurology

Background:

• Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disorder.
• It results from deficiencies in enzymes crucial for heparan sulfate breakdown, leading to neurodegeneration.

Purpose of the Study:

• To review clinical features, diagnosis, treatment, and follow-up for MPS III.
• To compile diagnostic recommendations and discuss emerging therapies.

Main Methods:

• Compilation of existing studies on MPS III.
• Analysis of diagnostic methods including urinary glycosaminoglycan quantification, enzyme activity assays, and gene sequencing.
• Review of current treatment strategies like enzyme replacement and gene therapy.

Main Results:

• Quantitative urinary glycosaminoglycan analysis is a key diagnostic tool.
• Enzyme activity and mutational analysis are essential for confirming diagnosis and subtyping MPS III.
• Enzyme replacement and gene therapy are potential treatment options.

Conclusions:

• Accurate diagnosis of MPS III relies on a combination of biochemical and genetic testing.
• While no universal treatment exists, enzyme and gene therapies offer promising avenues for managing MPS III.
• Further research into treatment and follow-up strategies is ongoing.