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KMID : 0918520150150010044
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Journal of the Korean Society of Inherited Metabolic Disease
2015 Volume.15 No. 1 p.44 ~ p.48
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A Case Report for a Korean Patient with Mucopolysaccharidosis IIIA Confirmed by Biochemical and Molecular Genetic Investigation
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Kim Bo-Rahm
Cho Sung-Yoon
Sohn Young-Bae
Park Hyung-Doo
Lee Soo-Youn
Song Jung-Han
Jin Dong-Kyu
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Abstract
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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.
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KEYWORD
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Heparan N-sulfatase, Korean, Mucopolysaccharidosis type IIIA, SGSH
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