• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.156-162
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• 2014

A 25-month-old boy was referred to the hospital due to large head detected on routine physical examination. At visit, dysmorphic facial appearances, including broad nose, prominent forehead, and coarse face, were noted. Nasal obstruction with nasal voice, prominent adenoids, and bilateral middle ear effusions were detected. His abdomen was distended, and liver and spleen were palpated about 3 finger and 2 finger breadths, respectively. He was operated for bilateral inguinal hernias. The motion of both elbow joints was mildly limited on supination and pronation. Urinary level of glycosaminoglycan was elevated and the enzyme activity of iduronate sulfatase in leukocytes was decreased. The mutational analysis of the gene iduronate 2-sulfatase (IDS) revealed c.263G>A (p.Arg88His) mutation. His developmental scale showed delayed development and there was cardiac valvular involvement (tricuspid regurgitation and mitral valve prolapse). After the diagnosis of Hunter syndrome, enzyme replacement therapy started on a weekly basis without progression of any clinical features. Here we report a case of early diagnosed Hunter syndrome detected by large head on routine examination. Thus, it is important to associate Hunter syndrome in the patient with large head especially, if there is the history of bilateral inguinal hernia and prominent adenoids to increase the possibility of early diagnosis and treatment.

• Applied Biological Chemistry
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• v.20 no.2
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• pp.175-181
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• 1977

Lysosomal enzyme latency was demonstrated for hydrolases from porcine leukocyte by suspending sediment sfrom differential centrifugation in 0.125 to 0.250 M sucrose. Specific activities pH optima and activation energies were determined for hydrolases distributed in various sedimentation fractions and for enzymes solubilized by n-butyl alcohol extraction. Specific activities of the hydrolases revealed the heterogeneity of the Iysosomal fractions relative to enzyme content. pH optima identified the enzyme as acid hydrolases with optima for cathepsin D and aryl sulfatase also at pH 6.8. Activation energies of some hydrolases were low revealing that these enzymes could function efficiently during low temperature aging of meat.

• Proceedings of the Korean Society of Fisheries Technology Conference
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• 2001.10a
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• pp.233-234
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• 2001

Marine microorganisms have a diverse range of enzymatic activity and are capable of catalyzing various biochemical reactions with diverse enzymes. There have been several studies reporting that various sulfatases isolated from such bacteria as Klebsiella pneumoniae (Miech et al., 1998), Salmonella typhimurium (Henderson and Milazzo, 1979; Murooka and Harada, 1981), Serratia marcescens (Murooka et al., 1980), Pseudomonas aeruginosa(Delisle and Milazzo, 1970), and Comamonas terigena(Fitzgerald and Cline, 1977). (omitted)

• Clinical and Experimental Reproductive Medicine
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• v.8 no.1
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• pp.19-22
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• 1981

정자 아크로좀이나 정액중에서 고순도로 정제된 탄수화물 분해효소들 및 썰파테이스를 개별적으로 또는 여러 조합으로 사용하여 난자막의 용해를 조사하였다. 베타 굴룩유로니데이스와 베타-엔-에시틸글루코사미니데이스가 전혀 없이 정제된 황소 정자의 하이얄유로니데이스는 토끼의 난자막중 큐믈러스층을 쉽게 분해시켰다. 토끼의 정자에서 얻은 아릴썰파테이스와 위의 하이얄유로니데이스는 더욱 빨리 토끼난자의 큐믈러스층을 용해시켰다. 한편 아릴썰파테이스는 하이얄유로니데이스나 베타-엔-에시틸 글루코사미니데이스들도 하이얄 유로니데이스들과 아릴썰파테이스들처럼 큐믈러스츨을 용해시켰으나 모든 경우에 난자의 코로나층이나 조나펠루시다층에는 아무런 변화를 주지 않고 있다.

• Archives of Pharmacal Research
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• v.24 no.6
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• pp.473-484
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• 2001

There is clearly a need for novel breast cancer chemopreventive agents with enhanced potency and specificity with tittle or no side effects. To this end, several new chemical moieties have been synthesized or isolated from natural sources. In this reviewal we have described some agents currently in use or under development for treatment or prevention of breast cancer, as well as our own strategies for the discovery of natural product modulators of estrogen biosynthesis and function. In particulars bioassay-guided fractionation of active plant extracts is a unique method for identifying agents with novel mechanisms of action, some of which should be useful for prevention of human cancer. Further, with the advent of combinatorial chemistry and high throughput screening, even greater progress may now be expected with natural product leads.

• Proceedings of the PSK Conference
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• 2003.10b
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• pp.177.3-177.3
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• 2003

Corticosteroids have been used most frequently for inflammatory bowel disease. To reduce side effects by the systemic absorption, colon-specific delivery is highly desirable. We expected that conversion of 21-hydroxyl in glucocorticoids into a sulfate ester sodium will greatly increase the hydrophilicity, which consequently restrict the gastrointestinal absorption. Once delivered to the colon, sulfate ester will be hydrolyzed by the sulfatase originated from microbes and release the parent compound, glucocorticoids. In this study, we prepared methylprednisolone 21-sulfate sodium (MPS) and investigated its suitability as a colon-specific prodrug on methylprednisolone (MP). (omitted)

• Proceedings of the PSK Conference
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• 2002.10a
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• pp.232.2-232.2
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• 2002

Corticosteroids have been used most frequently for inflammatory bowel disease. They are well absorbed and only a limited fraction of the dose is delivered to the inflammatory site in the colon. To reduce side effects by the systemic absorption. colon-specific delivery is highly desirable. We designed dexamethasone 21-sulfate sodium (DS) as a cOlon-specific prodrug of dexamethasone (D) expecting that it might be stable and non absorbable in the upper intestine and dissociate in the colon by the sulfatase, an enzyme solely found in the colon. (omitted)

• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.12-16
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• 2021

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase, leading to the accumulation of glycosaminoglycans (GAGs), which affects multiple organs and systems. Current treatments for MPS II include enzyme replacement therapy (ERT) and hematopoietic cell transplantation (HCT) to reduce the accumulation of GAGs. HCT has the potential advantage that donor-derived enzyme-competent cells can provide a continuous secreting source of the enzyme. However, HCT as a treatment for MPS II remains controversial because its effectiveness is unclear, particularly in terms of neurological symptoms. To date, several clinical experiences with HCT in MPS II have been reported. In this paper, we review post-HCT outcomes in the previously published literature and discuss the effects of HCT on each of the clinical signs and symptoms of MPS II.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.10 no.1
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• pp.59-66
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• 2010

Enzyme replacement of therapy (ERT) is one of the most promising therapeutic strategies for the treatment of lysosomal storage disorders. ERT is available in three types of Mucopolysaccharidosis (MPS): for MPS I (Aludrazyme$^{(R)}$), MPS II (Elaprase$^{(R)}$) and MPS VI (Naglazyme$^{(R)}$) patients who are over 5 years old. But recently, early diagnosis can be done by expert clinicians and even in prenatal case. We describe the case of ERT under 5 years old MPS patients. Up to June, 2010 in Samsung Medical Center, there are 6patients who were diagnosed as MPS and started ERT under 5 years old. 3 patients were MPS I, 3 patients were MPS II. 2 patient who was diagnosed as MPS I was female and others were male. Their age at diagnosis were 4 to 37month-old (4, 13, 16, 25, 27, 37 month-old) and they are now 9 to 60 month-old (9, 39, 32, 81, 60 month-old). The youngest patient was started ERT at 4 month-old and others were started at their 13 to 49 month-old (13, 29, 27, 28, 49 month-old). First manifested symptoms of patients were macrocephaly, kyphosis and coarse face appearance. Especially, in 2 of them, one was MPS I and the other was MPS II had elder brother with same disease. And the youngest one was diagnosed by the iduronate-2-sulfatase (IDS) gene analysis from chorionic villi sampling. His mother knew that she was a heterozygous carrier of IDS gene mutation because her younger brother died from MPS II. All of them confirmed as MPS by the enzyme assay in leukocytes and fibroblast skin culture. We started ERT with ${\alpha}$-L-iduronidase(Aldurazyme$^{(R)}$) to MPS I and did recombinant human iduronate-2-sulfatase (Elaprase$^{(R)}$) to MPS II patients as recommended dose as over 5 years old. But for MPS II patient who was 4 month old, we started ERT by recombinant human IDS (Elaprase$^{(R)}$) with reduced dose 0.1 mg/kg and increased dose every 2 weeks by 0.1mg/kg up to 0.5mg/kg IV infusion. During ERT, all patients had no adverse effects and the excretion of GAGs were decreased. We have evaluated other clinical symptoms such as liver/ spleen volume, heart function and neurologic evaluation. We describe a successful ERT to MPS I and MPS II patient under 5 years old without any adverse event. It indicates that ERT in young children are well tolerated and that it has several effects which may confer clinical benefits with long-term therapy.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.31-31
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• 2016

Purpose: To describle clinical features and enzyme activity of Vietnamese patients with Mucolipidosis type II. Methods: Clinical features, laboratory and plasma lysosom enzyme activity by 4 MU-Fluorometric assay was studied from 2014-2015 at the Northern referral center of Pediatrics - National Children's Hospital. Results: 16 cases (7 girls and 9 boys) were diagnosed with I-cell bases on clinical symptoms and enzyme activities studies. Diagnosis age was $5.93{\pm}4.28$ years, onset age was recognised from birth to 4 years (median 1.25) with the feature of joint stiffness and bone deformation. All cases presented with the feature of joint stiffness, chest deformation and kyphoscoliosis; Fifteen cases (93.7%) had coarse facial features. No patients had hepatosplenomegaly on abdominal ultrasound, 5/15 patients had heart valves disease. Enzyme assay showed ${\alpha}$-Hexosaminidase of $1,885.9{\pm}338.7$ (nmol/mg plasma/17 hrs), ${\alpha}$-Iduronate sulfatase of $4,534.8{\pm}1,062.9nmol/mg$ plasma/4 hrs). Conclusion: Mucolipidosis II seriously affected the life of the patients with skeletal deformities, contractures develop in all joints and cardiac involvement.