Phenylketonuria screening: Difference between revisions
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*Newborns are usually screened shortly following birth between day 6 to 14. | *Newborns are usually screened shortly following birth between day 6 to 14. | ||
*Neonatal heel prick is used to obtain a blood sample for screening. | *Neonatal heel prick is used to obtain a blood sample for screening. | ||
*Screening for PKU is by usually either by [[HPLC]] test or by [[Guthrie test]]<ref name="pmid26025111">{{cite journal| author=Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Baric I, Djordjevic M et al.| title=Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries. | journal=Orphanet J Rare Dis | year= 2015 | volume= 10 | issue= 1 | pages= 68 | pmid=26025111 | doi=10.1186/s13023-015-0283-0 | pmc=PMC4451731 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26025111 }} </ref> | *Screening for PKU is by usually either by [[HPLC]] test or by [[Guthrie test]].<ref name="pmid26025111">{{cite journal| author=Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Baric I, Djordjevic M et al.| title=Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries. | journal=Orphanet J Rare Dis | year= 2015 | volume= 10 | issue= 1 | pages= 68 | pmid=26025111 | doi=10.1186/s13023-015-0283-0 | pmc=PMC4451731 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26025111 }} </ref> | ||
*If a test result returns positive, the test is typically repeated at 2 weeks of age to confirm or rule out the diagnosis. | *If a test result returns positive, the test is typically repeated at 2 weeks of age to confirm or rule out the diagnosis. | ||
Revision as of 15:39, 10 June 2015
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Phenylketonuria Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Phenylketonuria On the Web |
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American Roentgen Ray Society Images of Phenylketonuria |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Yanira Gavidia, M.D.
Overview
Newborns are usually screened for phenylketonuria between the age of 6 to 14 days using either HPLC or Guthrie test. If results are positive, the test is usually repeated at 2 weeks of age to confirm or rule out the diagnosis.
Screening
- Newborns are usually screened shortly following birth between day 6 to 14.
- Neonatal heel prick is used to obtain a blood sample for screening.
- Screening for PKU is by usually either by HPLC test or by Guthrie test.[1]
- If a test result returns positive, the test is typically repeated at 2 weeks of age to confirm or rule out the diagnosis.
References
- ↑ Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Baric I, Djordjevic M; et al. (2015). "Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries". Orphanet J Rare Dis. 10 (1): 68. doi:10.1186/s13023-015-0283-0. PMC 4451731. PMID 26025111.