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Article: Analysis of inborn errors of metabolism: Disease spectrum for expanded newborn screening in Hong Kong

TitleAnalysis of inborn errors of metabolism: Disease spectrum for expanded newborn screening in Hong Kong
Authors
Issue Date2011
PublisherChinese Medical Association. The Journal's web site is located at http://www.cmj.org/
Citation
Chinese Medical Journal, 2011, v. 124 n. 7, p. 983-989 How to Cite?
AbstractBackground Data of classical inborn errors of metabolism (IEM) of amino acids, organic acids and fatty acid oxidation are largely lacking in Hong Kong, where mass spectrometry-based expanded newborn screening for IEM has not been initiated. The current study aimed to evaluate the approximate incidence, spectrum and other characteristics of classical IEM in Hong Kong, which would be important in developing an expanded newborn screening program for the local area. Methods The laboratory records of plasma amino acids, plasma acylcarnitines and urine organic acids analyses from year 2005 to 2009 inclusive in three regional chemical pathology laboratories providing biochemical and genetic diagnostic services for IEM were retrospectively reviewed. Results Among the cohort, 43 patients were diagnosed of IEM, including 30 cases (69%) of amino acidemias (predominantly citrin deficiency, hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency and tyrosinemia type I), 5 cases (12%) of organic acidemias (predominantly holocarboxylase synthetase deficiency) and 8 cases (19%) of fatty acid oxidation defects (predominantly carnitine-acylcarnitine translocase deficiency). The incidence of classical IEM in Hong Kong was roughly estimated to be at least 1 case per 4122 lives births, or 0.243 cases per 1000 live births. This incidence is similar to those reported worldwide, including the mainland of China. The estimated incidence of hyperphenylalaninemia was 1 in 29 542 live births. Conclusions Our data indicate that it is indisputable for the introduction of expanded newborn screening program in Hong Kong. Since Hong Kong is a metropolitan city, a comprehensive expanded newborn screening program and referral system should be available to serve the neonates born in the area.
Persistent Identifierhttp://hdl.handle.net/10722/145489
ISSN
2015 Impact Factor: 0.957
2015 SCImago Journal Rankings: 0.428
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLee, HCHen_HK
dc.contributor.authorMak, CMen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorYuen, YPen_HK
dc.contributor.authorChen, AOKen_HK
dc.contributor.authorShek, CCen_HK
dc.contributor.authorSiu, TSen_HK
dc.contributor.authorLai, CKen_HK
dc.contributor.authorChing, CKen_HK
dc.contributor.authorSiu, WKen_HK
dc.contributor.authorChen, SPLen_HK
dc.contributor.authorLaw, CYen_HK
dc.contributor.authorTai, MHLen_HK
dc.contributor.authorTam, Sen_HK
dc.contributor.authorChan, AYWen_HK
dc.date.accessioned2012-02-23T12:11:33Z-
dc.date.available2012-02-23T12:11:33Z-
dc.date.issued2011en_HK
dc.identifier.citationChinese Medical Journal, 2011, v. 124 n. 7, p. 983-989en_HK
dc.identifier.issn0366-6999en_HK
dc.identifier.urihttp://hdl.handle.net/10722/145489-
dc.description.abstractBackground Data of classical inborn errors of metabolism (IEM) of amino acids, organic acids and fatty acid oxidation are largely lacking in Hong Kong, where mass spectrometry-based expanded newborn screening for IEM has not been initiated. The current study aimed to evaluate the approximate incidence, spectrum and other characteristics of classical IEM in Hong Kong, which would be important in developing an expanded newborn screening program for the local area. Methods The laboratory records of plasma amino acids, plasma acylcarnitines and urine organic acids analyses from year 2005 to 2009 inclusive in three regional chemical pathology laboratories providing biochemical and genetic diagnostic services for IEM were retrospectively reviewed. Results Among the cohort, 43 patients were diagnosed of IEM, including 30 cases (69%) of amino acidemias (predominantly citrin deficiency, hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency and tyrosinemia type I), 5 cases (12%) of organic acidemias (predominantly holocarboxylase synthetase deficiency) and 8 cases (19%) of fatty acid oxidation defects (predominantly carnitine-acylcarnitine translocase deficiency). The incidence of classical IEM in Hong Kong was roughly estimated to be at least 1 case per 4122 lives births, or 0.243 cases per 1000 live births. This incidence is similar to those reported worldwide, including the mainland of China. The estimated incidence of hyperphenylalaninemia was 1 in 29 542 live births. Conclusions Our data indicate that it is indisputable for the introduction of expanded newborn screening program in Hong Kong. Since Hong Kong is a metropolitan city, a comprehensive expanded newborn screening program and referral system should be available to serve the neonates born in the area.en_HK
dc.languageengen_US
dc.publisherChinese Medical Association. The Journal's web site is located at http://www.cmj.org/en_HK
dc.relation.ispartofChinese Medical Journalen_HK
dc.subject.meshAcids - urineen_HK
dc.subject.meshAmino Acids - blooden_HK
dc.subject.meshCarnitine - analogs & derivatives - blooden_HK
dc.subject.meshHong Kong - epidemiologyen_HK
dc.subject.meshHumansen_HK
dc.subject.meshInfant, Newbornen_HK
dc.subject.meshMetabolism, Inborn Errors - blood - diagnosis - epidemiology - urineen_HK
dc.subject.meshNeonatal Screening - methodsen_HK
dc.subject.meshTandem Mass Spectrometryen_HK
dc.titleAnalysis of inborn errors of metabolism: Disease spectrum for expanded newborn screening in Hong Kongen_HK
dc.typeArticleen_HK
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_HK
dc.identifier.emailLaw, CY:ericlaw@pathology.hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.identifier.authorityLaw, CY=rp01586en_HK
dc.description.naturelink_to_OA_fulltexten_US
dc.identifier.doi10.3760/cma.j.issn.0366-6999.2011.07.006en_HK
dc.identifier.pmid21542954-
dc.identifier.scopuseid_2-s2.0-79954511214en_HK
dc.identifier.hkuros192449-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79954511214&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume124en_HK
dc.identifier.issue7en_HK
dc.identifier.spage983en_HK
dc.identifier.epage989en_HK
dc.identifier.isiWOS:000290289700006-
dc.publisher.placeChinaen_HK

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