Mucopolysaccharidosis type 3C

MONDO:0009657

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.

Also known as: HGSNAT deficiency, MPS III C, MPS3C, MPSIIIC, Sanfilippo C, Sanfilippo syndrome type C, heparan-alpha-glucosaminide N-acetyltransferase deficiency, mucopolysaccharidosis type 3C

5 clinical trials for this condition and its sub-types, 2 tagged with Mucopolysaccharidosis type 3C itself.

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Where it sits in the disease tree

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Part of

↑ Lysosomal storage disease with skeletal involvement (64) ↑ Mucopolysaccharidosis type 3 (18)

Including sub-types (5) Tagged with Mucopolysaccharidosis type 3C (2)

Trials to join now! 1 Not yet recruiting 1

New study tracks rare brain disease in children to pave way for future treatments

Knowledge-focused Recruiting now

This study follows 30 children and young adults with Sanfilippo syndrome type C, a rare genetic disorder that causes severe brain damage. Researchers will measure changes in development and thinking skills over time using standard tests. The goal is to better understand how the d…

Sponsor: Phoenix Nest • Aim: Knowledge-focused

Last updated Jun 27, 2026 12:32 UTC

Mucopolysaccharidosis type 3C

Where it sits in the disease tree

New study tracks rare brain disease in children to pave way for future treatments