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[Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome)].
Zhonghua Er Ke Za Zhi 2006; 44(9):644-7ZE

Abstract

OBJECTIVE

Mucopolysaccharidosis type II (MPS II, Hunter syndrome, OMIM 309900) is an X-linked recessive lysosomal storage disease resulting from a deficiency of iduronte-2-sulphate sulphatase (IDS). The present study aimed to establish an enzyme assay method for IDS activity for carrying out postnatal and prenatal diagnosis of MPS II by means of IDS activity assay on plasma, uncultured chorionic villi (CV) and cultured amniotic fluid cells (AF cell) using a new synthesized substrate.

METHODS

A fluorigenic substrate (4-methylumbelliferyl-alpha-iduronate-2-sulphate, MU-alpha-Idu-2S) was used for the assay of IDS activity. IDS activity in plasma was determined for diagnosis of the proband. Prenatal diagnosis in 10 pregnancies at risk was carried out according to IDS activity on uncultured CV at 11th week or on cultured AF cell at 18th week of gestation. At the same time, IDS activity was also determined in the maternal plasmas to observe the change of IDS activity in pregnancy. The fetal sex determination was performed by PCR amplification of the ZFX/ZFY genes.

RESULT

The IDS activity in plasma of normal controls and obligate heterozygotes were 240.2 - 668.2 nmol/(4 hxml) and 88.7 - 547.9 nmol/(4 hxml), respectively, while the enzyme activities in plasmas were in the range of 0.3 - 18.6 nmol/(4 hxml) in affected male. The IDS activities were 37.2 - 54.9 nmol/(4 hxmg protein) and 21.4 - 74.4 nmol/(4 hxmg protein) in CV and cultured AF cells respectively. Out of 50 suspected cases, 46 were diagnosed as having MPS II and 4 were excluded. Prenatal diagnosis was performed on 10 pregnancies at risk. Four of 5 male fetuses [IDS activity were 4.7, 1.8, 7.0 nmol/(4hxmg protein) in CV, 0.6 nmol/(4 hxmg protein) in AF cell] were diagnosed as having MPS II and the other 5 fetuses were normal females [IDS activity were: 48.7, 5.9, 25.2 nmol/(4 hxmg protein) in CV, 55.2, 40.9 nmol/(4 hxmg protein) in AF cell]. Increased IDS activity was observed in plasma of the pregnant women with unaffected fetuses, while the IDS activity decreased in pregnancies with affected fetuses. IDS activity of one female fetus was very low [5.9 nmol/(4 hxmg protein)], but the IDS activity in maternal plasmas increased, this fetus was a normal female.

CONCLUSIONS

The method using a synthesized fluorigenic 4-methylumbelliferyl-substrate was a sensitive, rapid and convenient assay of IDS activity and was reliable for early prenatal diagnosis. Determination of fetal sex would be helpful in excluding the female fetus with low IDS activity from being considered as an affected male fetus. It would be further helpful if IDS activity in maternal plasma was taken into account.

Authors+Show Affiliations

Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing 100005, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article

Language

chi

PubMed ID

17217652

Citation

Zhang, Wei-min, et al. "[Postnatal and Prenatal Diagnosis of Mucopolysaccharidosis Type II (Hunter Syndrome)]." Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, vol. 44, no. 9, 2006, pp. 644-7.
Zhang WM, Shi HP, Li BT, et al. [Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome)]. Zhonghua Er Ke Za Zhi. 2006;44(9):644-7.
Zhang, W. M., Shi, H. P., Li, B. T., Zhao, S. M., Qi, Q. W., Sun, N. H., & Huang, S. Z. (2006). [Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome)]. Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 44(9), pp. 644-7.
Zhang WM, et al. [Postnatal and Prenatal Diagnosis of Mucopolysaccharidosis Type II (Hunter Syndrome)]. Zhonghua Er Ke Za Zhi. 2006;44(9):644-7. PubMed PMID: 17217652.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome)]. AU - Zhang,Wei-min, AU - Shi,Hui-ping, AU - Li,Bei-te, AU - Zhao,Shi-min, AU - Qi,Qing-wei, AU - Sun,Nian-hu, AU - Huang,Shang-zhi, PY - 2007/1/16/pubmed PY - 2010/7/31/medline PY - 2007/1/16/entrez SP - 644 EP - 7 JF - Zhonghua er ke za zhi = Chinese journal of pediatrics JO - Zhonghua Er Ke Za Zhi VL - 44 IS - 9 N2 - OBJECTIVE: Mucopolysaccharidosis type II (MPS II, Hunter syndrome, OMIM 309900) is an X-linked recessive lysosomal storage disease resulting from a deficiency of iduronte-2-sulphate sulphatase (IDS). The present study aimed to establish an enzyme assay method for IDS activity for carrying out postnatal and prenatal diagnosis of MPS II by means of IDS activity assay on plasma, uncultured chorionic villi (CV) and cultured amniotic fluid cells (AF cell) using a new synthesized substrate. METHODS: A fluorigenic substrate (4-methylumbelliferyl-alpha-iduronate-2-sulphate, MU-alpha-Idu-2S) was used for the assay of IDS activity. IDS activity in plasma was determined for diagnosis of the proband. Prenatal diagnosis in 10 pregnancies at risk was carried out according to IDS activity on uncultured CV at 11th week or on cultured AF cell at 18th week of gestation. At the same time, IDS activity was also determined in the maternal plasmas to observe the change of IDS activity in pregnancy. The fetal sex determination was performed by PCR amplification of the ZFX/ZFY genes. RESULT: The IDS activity in plasma of normal controls and obligate heterozygotes were 240.2 - 668.2 nmol/(4 hxml) and 88.7 - 547.9 nmol/(4 hxml), respectively, while the enzyme activities in plasmas were in the range of 0.3 - 18.6 nmol/(4 hxml) in affected male. The IDS activities were 37.2 - 54.9 nmol/(4 hxmg protein) and 21.4 - 74.4 nmol/(4 hxmg protein) in CV and cultured AF cells respectively. Out of 50 suspected cases, 46 were diagnosed as having MPS II and 4 were excluded. Prenatal diagnosis was performed on 10 pregnancies at risk. Four of 5 male fetuses [IDS activity were 4.7, 1.8, 7.0 nmol/(4hxmg protein) in CV, 0.6 nmol/(4 hxmg protein) in AF cell] were diagnosed as having MPS II and the other 5 fetuses were normal females [IDS activity were: 48.7, 5.9, 25.2 nmol/(4 hxmg protein) in CV, 55.2, 40.9 nmol/(4 hxmg protein) in AF cell]. Increased IDS activity was observed in plasma of the pregnant women with unaffected fetuses, while the IDS activity decreased in pregnancies with affected fetuses. IDS activity of one female fetus was very low [5.9 nmol/(4 hxmg protein)], but the IDS activity in maternal plasmas increased, this fetus was a normal female. CONCLUSIONS: The method using a synthesized fluorigenic 4-methylumbelliferyl-substrate was a sensitive, rapid and convenient assay of IDS activity and was reliable for early prenatal diagnosis. Determination of fetal sex would be helpful in excluding the female fetus with low IDS activity from being considered as an affected male fetus. It would be further helpful if IDS activity in maternal plasma was taken into account. SN - 0578-1310 UR - https://www.unboundmedicine.com/medline/citation/17217652/[Postnatal_and_prenatal_diagnosis_of_mucopolysaccharidosis_type_II__Hunter_syndrome_]_ L2 - http://journal.yiigle.com/LinkIn.do?linkin_type=pubmed&issn=0578-1310&year=2006&vol=44&issue=9&fpage=644 DB - PRIME DP - Unbound Medicine ER -