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The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.

Annals of laboratory medicine - 1 Jan 2013

Huh Hee Jae, Seo Ja Young, Cho Sung Yoon, Ki Chang-Seok, Lee Soo-Youn, Kim Jong-Won, Park Hyung-Doo, Jin Dong-Kyu

Abstract excerpt

Mucopolysaccharidosis (MPS) III has 4 enzymatically distinct forms (A, B, C, and D), and MPS IIIC, also known as Sanfilippo C syndrome, is an autosomal recessive lysosomal storage disease caused by a deficiency of heparan acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT). Here, we report a case of MPS IIIC that was confirmed by molecular genetic analysis. The patient was a 2-yr-old girl presenting with...

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Identifiers

PMID: 23301227
DOI: 10.3343/alm.2013.33.1.75
PMCID: PMC3535201

Genes

HGSNAT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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