title: The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.
abstract: 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 skeletal deformity, hepatomegaly, and delayed motor development. Urinary excretion of glycosaminoglycan (GAG) was markedly elevated (984.4 mg GAG/g creatinine) compared with the age-specific reference range (<175 mg GAG/g creatinine), and a strong band of heparan sulfate was recognized on performing thin layer chromatography. HGSNAT enzyme activity in leukocytes was 0.7 nmol/17 hr/mg protein, which was significantly lower than the reference range (8.6-32 nmol/17 hr/mg protein). PCR and direct sequencing of the HGSNAT gene showed 2 mutations: c.234+1G>A (IVS2+1G>A) and c.1150C>T (p.Arg384*). To the best of our knowledge, this is the first case of MPS IIIC to be confirmed by clinical, biochemical, and molecular genetic findings in Korea.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hee Jae
authors.initials: HJ
authors.lastname: Huh
authors.forename: Ja Young
authors.initials: JY
authors.lastname: Seo
authors.forename: Sung Yoon
authors.initials: SY
authors.lastname: Cho
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Soo-Youn
authors.initials: SY
authors.lastname: Lee
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Hyung-Doo
authors.initials: HD
authors.lastname: Park
authors.forename: Dong-Kyu
authors.initials: DK
authors.lastname: Jin
mesh_terms: D000123:Acetyltransferases / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D002855:Chromatography, Thin Layer; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine; D006497:Heparan Sulfate / Q000737:chemistry / Q000378:metabolism; D006801:Humans; D007962:Leukocytes / Q000276:immunology / Q000378:metabolism; D009084:Mucopolysaccharidosis III / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D009154:Mutation; D011859:Radiography; D056910:Republic of Korea; D017422:Sequence Analysis, DNA
chemical_list: D000123:Acetyltransferases; D006025:Glycosaminoglycans; D006497:Heparan Sulfate; C514442:HGSNAT protein, human
keywords: HGSNAT; Korea; Mucopolysaccharidosis IIIC; Sanfilippo syndrome