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Article: Phenylketonuria in Hong Kong Chinese: A call for hyperphenylalaninemia newborn screening in the special administrative region, China

TitlePhenylketonuria in Hong Kong Chinese: A call for hyperphenylalaninemia newborn screening in the special administrative region, China
Authors
Keywords6-pyruvoyl-tetrahydropterin synthase deficiency
Chinese
Hong Kong
Hyperphenylalaninemia
Newborn screening
Phenylketonuria
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. 16, p. 2556-2558 How to Cite?
AbstractHyperphenylalaninemia is one of the commonest inborn errors of metabolism affecting approximately 1 in 15 000 live births. Among Chinese, BH4 deficiency leading to hyperphenylalaninemia is much commoner than in Caucasians. Exact diagnosis is important for the treatment and genetic counseling. In 2000, newborn screening for phenylketonuria is mandatory by law in China throughout the whole country. However, it is not yet included in the newborn screening program of the Hong Kong Special Administrative Region, China. Published data on hyperphenylalaninemia among Hong Kong Chinese are largely lacking. We report a 1-year-old Hong Kong Chinese girl with severe 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. The patient presented with infantile hypotonia and was misdiagnosed as cerebral palsy. She had very mild hyperphenylalaninemia (95 μmol/L), significantly high phenylalnine-to-tyrosine ratio (3.1), and elevated prolactin of 1109 mIU/L. Genetic analysis confirmed a homozygous known disease-causing mutation PTS NM_000317.1: c.259C>T; NP_000308.1: p.P87S in the proband. In our local experience, while the estimated prevalence of hyperphenylalaninemia due to PTPS deficiency was reported to be 1 in 29 542 live births, not a single case of phenylalanine hydroxylase deficiency has been reported. Furthermore, there is a general lack of awareness of inherited metabolic diseases in the community as well as among the medical professionals. Very often, a low index of clinical suspicion will lead to delay in diagnosis, multiple unnecessary and costly investigations, prolonged morbidity and anxiety to the family affected. We strongly recommend that expanded newborn screening for hyperphenylalaninemia should be implemented for every baby born in the Hong Kong Special Administrative Region, China.
Persistent Identifierhttp://hdl.handle.net/10722/145486
ISSN
2015 Impact Factor: 0.957
2015 SCImago Journal Rankings: 0.428
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorMak, CMen_HK
dc.contributor.authorKo, CHen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorLau, WLen_HK
dc.contributor.authorSiu, WKen_HK
dc.contributor.authorChen, SPLen_HK
dc.contributor.authorLaw, CYen_HK
dc.contributor.authorLai, CKen_HK
dc.contributor.authorYu, CMen_HK
dc.contributor.authorChan, AYWen_HK
dc.date.accessioned2012-02-23T12:11:30Z-
dc.date.available2012-02-23T12:11:30Z-
dc.date.issued2011en_HK
dc.identifier.citationChinese Medical Journal, 2011, v. 124 n. 16, p. 2556-2558en_HK
dc.identifier.issn0366-6999en_HK
dc.identifier.urihttp://hdl.handle.net/10722/145486-
dc.description.abstractHyperphenylalaninemia is one of the commonest inborn errors of metabolism affecting approximately 1 in 15 000 live births. Among Chinese, BH4 deficiency leading to hyperphenylalaninemia is much commoner than in Caucasians. Exact diagnosis is important for the treatment and genetic counseling. In 2000, newborn screening for phenylketonuria is mandatory by law in China throughout the whole country. However, it is not yet included in the newborn screening program of the Hong Kong Special Administrative Region, China. Published data on hyperphenylalaninemia among Hong Kong Chinese are largely lacking. We report a 1-year-old Hong Kong Chinese girl with severe 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. The patient presented with infantile hypotonia and was misdiagnosed as cerebral palsy. She had very mild hyperphenylalaninemia (95 μmol/L), significantly high phenylalnine-to-tyrosine ratio (3.1), and elevated prolactin of 1109 mIU/L. Genetic analysis confirmed a homozygous known disease-causing mutation PTS NM_000317.1: c.259C>T; NP_000308.1: p.P87S in the proband. In our local experience, while the estimated prevalence of hyperphenylalaninemia due to PTPS deficiency was reported to be 1 in 29 542 live births, not a single case of phenylalanine hydroxylase deficiency has been reported. Furthermore, there is a general lack of awareness of inherited metabolic diseases in the community as well as among the medical professionals. Very often, a low index of clinical suspicion will lead to delay in diagnosis, multiple unnecessary and costly investigations, prolonged morbidity and anxiety to the family affected. We strongly recommend that expanded newborn screening for hyperphenylalaninemia should be implemented for every baby born in the Hong Kong Special Administrative Region, China.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.subject6-pyruvoyl-tetrahydropterin synthase deficiencyen_HK
dc.subjectChineseen_HK
dc.subjectHong Kongen_HK
dc.subjectHyperphenylalaninemiaen_HK
dc.subjectNewborn screeningen_HK
dc.subjectPhenylketonuriaen_HK
dc.titlePhenylketonuria in Hong Kong Chinese: A call for hyperphenylalaninemia newborn screening in the special administrative region, Chinaen_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.0366-6999.2011.16.028en_HK
dc.identifier.pmid21933604-
dc.identifier.scopuseid_2-s2.0-80052010901en_HK
dc.identifier.hkuros201625-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-80052010901&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume124en_HK
dc.identifier.issue16en_HK
dc.identifier.spage2556en_HK
dc.identifier.epage2558en_HK
dc.identifier.isiWOS:000294584200028-
dc.publisher.placeChinaen_HK

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