Novel HGSNAT Variants Identified in the Oldest Siblings With MPS IIIC: Functional Characterization and Literature Review.

Abstract excerpt

Mucopolysaccharidosis type IIIC (MPS IIIC) is a rare lysosomal storage disorder caused by biallelic pathogenic variants in the HGSNAT gene, encoding heparan-α-glucosaminide N-acetyltransferase. Deficient enzymatic activity leads to heparan sulfate accumulation, resulting in progressive central nervous system involvement and multisystem disease. Clinical features typically include developmental delay, intellectual...

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