Browse > Article

A Case Report for a Korean Patient with Mucopolysaccharidosis IIIA Confirmed by Biochemical and Molecular Genetic Investigation  

Kim, Borahm (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Cho, Sung Yoon (Department of Laboratory Medicine and Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Sohn, Young Bae (Department of Medical Genetics, Ajou University School of Medicine)
Park, Hyung-Doo (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Lee, Soo-Youn (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Song, Junghan (Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul National University Bundang Hospital)
Jin, Dong-Kyu (Department of Laboratory Medicine and Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.15, no.1, 2015 , pp. 44-48 More about this Journal
Abstract
Mucopolysaccharidosis (MPS) IIIA is a lysosomal storage disorder caused by abnormalities of the enzyme Heparan N-sulfatase that is required for degradation of heparan sulfate. The patient in this study was a 5 year-old boy who presented with macrocephaly and developmental delay. Urinary excretion of glycosaminoglycan was increased (26 g/moL creatinine, reference range: <7 g/moL creatinine) and a distinct band of heparan sulfate was shown in electrophoresis. Heparan N-sulfatase activity was significantly decreased in skin fibroblasts (0.2 pmoL/min/mg protein, reference range: 9-64 pmoL/min/mg protein). PCR and direct sequencing analysis of the SGSH gene showed compound heterozygous mutations: c.1040C>T (p.S347F) and c.703G>A (p.D235N). This is the first report for a Korean patient with MPS IIIA who was confirmed by biochemical investigation and molecular genetic analyses.
Keywords
Heparan N-sulfatase; Korean; Mucopolysaccharidosis type IIIA; SGSH;
Citations & Related Records
Times Cited By KSCI : 3  (Citation Analysis)
연도 인용수 순위
1 Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis 2008;31:240-52.   DOI
2 Cleary MA, Wraith JE. Management of mucopolysaccharidosis type III. Arch Dis Child 1993;69:403-6.   DOI
3 de Jong JG, Wevers RA, Liebrand-van Sambeek R. Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. Clin Chem 1992;38:803-7.
4 Gray G, Claridge P, Jenkinson L, Green A. Quantitation of urinary glycosaminoglycans using dimethylene blue as a screening technique for the diagnosis of mucopolysaccharidoses: an evaluation. Ann Clin Biochem 2007;44:360-3.   DOI
5 Meyer A, Kossow K, Gal A, Muhlhausen C, Ullrich K, Braulke T, et al. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics 2007;120:e1255-61.   DOI
6 Yogalingam G, Hopwood JJ. Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. Hum Mutat 2001;18:264-81.   DOI
7 Huh HJ, Seo JY, Cho SY, Ki CS, Lee SY, Kim JW, et al. The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation. Ann Lab Med 2013;33:75-9.   DOI
8 Kim YE, Park HD, Jang MA, Ki CS, Lee SY, Kim JW, et al. A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB. Ann Lab Med 2013;33:221-4.   DOI
9 Sohn WY, Lee JH, Paik KH, Kwon EK, Kim AH, Jin DK. Clinical and Laboratory Features of Korean Mucopolysaccharidoses (MPSs). Korean J Pediatr 2005;48:1132-8.
10 Delgadillo V, O'Callaghan Mdel M, Gort L, Coll MJ, Pineda M. Natural history of Sanfilippo syndrome in Spain. Orphanet J Rare Dis 2013;8:189.   DOI
11 Lin HY, Lin SP, Chuang CK, Niu DM, Chen MR, Tsai FJ, et al. Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. Am J Med Genet A 2009;149A:960-4.   DOI
12 Tanaka A, Kimura M, Lan HT, Takaura N, Yamano T. Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations. J Hum Genet 2002;47:484-7.   DOI
13 Di Natale P, Balzano N, Esposito S, Villani GR. Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. Hum Mutat 1998;11:313-20.   DOI
14 Esposito S, Balzano N, Daniele A, Villani GR, Perkins K, Weber B, et al. Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects. Biochim Biophys Acta 2000;1501:1-11.   DOI
15 Bunge S, Ince H, Steglich C, Kleijer WJ, Beck M, Zaremba J, et al. Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). Hum Mutat 1997;10:479-85.   DOI
16 Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll MJ, Chabas A, et al. Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients. Hum Mutat 1998;12:274-9.   DOI
17 Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, et al. Novel mutations in Sanfilippo A syndrome: implications for enzyme function. Hum Mol Genet 1997;6:1573-9.   DOI
18 Gabrielli O, Coppa GV, Bruni S, Villani GR, Pontarelli G, Di Natale P. An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene. Am J Med Genet A 2005;133A:85-9.   DOI
19 Miyazaki T, Masuda N, Waragai M, Motoyoshi Y, Kurokawa K, Yuasa T. An adult Japanese Sanfilippo A patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene. J Neurol Neurosurg Psychiatry 2002;73:777-8.   DOI
20 Lee-Chen GJ, Lin SP, Ko MH, Chuang CK, Chen CP, Lee HH, et al. Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA). Clin Genet 2002;61:192-7.   DOI