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Condition report · Metabolic

MPS III (Sanfilippo Syndrome)

A group of inherited lysosomal storage diseases caused by variants in SGSH, NAGLU, HGSNAT or GNS, in which childhood neurodegeneration dominates over physical features.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Mucopolysaccharidosis type III (Sanfilippo syndrome types A, B, C and D)

Autosomal recessive

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.

What a diagnosis changes

There is no approved disease-modifying therapy yet; a genetic diagnosis guides supportive care, family testing and eligibility for clinical trials.

Genes analysed

Also known as

heparan sulphate sulfatase deficiency; MPS3; MPSIII; Mucopoly-saccharidosis type 3; Mucopolysaccharidosis Type III; Sanfilippo disease; Sanfilippo syndrome

Includes 4 related subtypes ↓
  • mucopolysaccharidosis type 3A
  • mucopolysaccharidosis type 3B
  • mucopolysaccharidosis type 3C
  • mucopolysaccharidosis type 3D
MONDO:0018937Orphanet 581MedGen 6452

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