지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2013.1
- 수록면
- 221 - 224 (4page)
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초록· 키워드
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Mucopolysaccharidosis (MPS) IIIB is a lysosomal storage disorder (LSD) caused by abnormalities of the enzyme α-N-acetylglucosaminidase (NAGLU) that is required for degradation of heparan sulfate. The patient in this study was a 4-yr-old boy. He presented with normal height and weight, pectus carinatum, and multiple persistent Mongolian spots on his back. He had mild dysmorphic features with prominent speech developmental delays and, to a lesser extent, motor developmental delays. The cetylpyridinium chloride precipitation test revealed excessive mucopolysacchariduria (657.2 mg glycosaminoglycan/g creatinine;reference range, <175 mg glycosaminoglycan/g creatinine). Thin layer chromatography showed urinary heparan sulfate excretion. NAGLU enzyme activity was significantly decreased in leukocytes (not detected; reference range, 0.9-1.51 nmol/hr/mg protein)as well as in plasma (0.14 nmol/hr/mg protein; reference range, 22.3-60.9 nmol/hr/mg protein). PCR and direct sequencing analysis of the NAGLU gene showed that the patient was a compound heterozygote for 2 mutations: c.200T>C (p.L67P) and c.1444C>T (p.R482W). The c.200T>C mutation was a novel finding. This is the first report of a Korean patient with MPS IIIB who was confirmed by molecular genetic analyses and biochemical investigation.
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참고문헌 (19)
참고문헌 신청
Baehner F / 2005 / Cumulative incidence rates of the mucopolysaccharidoses in Germany / J Inherit Metab Dis 28 : 1011 ~ 1017
Bunge S / 1999 / Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations / J Med Genet 36 : 28 ~ 31
Heron B / 2011 / Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece / Am J Med Genet A 155A : 58 ~ 68
Lin HY / 2009 / Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004 / Am J Med Genet A 149A : 960 ~ 964
Ng PC / 2001 / Predicting deleterious amino acid substitutions / Genome Res 11 : 863 ~ 874
Bunge S / 1999 / Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations / J Med Genet 36 : 28 ~ 31
Heron B / 2011 / Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece / Am J Med Genet A 155A : 58 ~ 68
Lin HY / 2009 / Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004 / Am J Med Genet A 149A : 960 ~ 964
Ng PC / 2001 / Predicting deleterious amino acid substitutions / Genome Res 11 : 863 ~ 874
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