The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation.
- Author:
Hee Jae HUH
1
;
Ja Young SEO
;
Sung Yoon CHO
;
Chang Seok KI
;
Soo Youn LEE
;
Jong Won KIM
;
Hyung Doo PARK
;
Dong Kyu JIN
Author Information
- Publication Type:Case Reports
- Keywords: Mucopolysaccharidosis IIIC; HGSNAT; Sanfilippo syndrome; Korea
- MeSH: Acetyltransferases/*genetics; Asian Continental Ancestry Group/*genetics; Base Sequence; Child, Preschool; Chromatography, Thin Layer; Female; Glycosaminoglycans/urine; Heparitin Sulfate/chemistry/metabolism; Humans; Leukocytes/immunology/metabolism; Mucopolysaccharidosis III/*diagnosis/genetics/radiography; Mutation; Republic of Korea; Sequence Analysis, DNA
- From:Annals of Laboratory Medicine 2013;33(1):75-79
- CountryRepublic of Korea
- Language:English
- 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.
