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