A Novel Mutation (c.200T>C) in the NAGLU Gene of a Korean Patient with Mucopolysaccharidosis IIIB
Annals of Laboratory Medicine
;
: 221-224, 2013.
Article
in English
| WPRIM
| ID: wpr-148982
ABSTRACT
Mucopolysaccharidosis (MPS) IIIB is a lysosomal storage disorder (LSD) caused by abnormalities of the enzyme alpha-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, 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Acetylglucosaminidase
/
Polymerase Chain Reaction
/
Chromatography, Thin Layer
/
Mucopolysaccharidosis III
/
Sequence Analysis, DNA
/
Asian People
/
Alleles
/
Republic of Korea
/
Heterozygote
/
Leukocytes
Limits:
Child, preschool
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Annals of Laboratory Medicine
Year:
2013
Type:
Article
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