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Article: Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria

TitleDiagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria
Authors
Issue Date2003
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html
Citation
Hong Kong Medical Journal, 2003, v. 9 n. 2, p. 130-132 How to Cite?
AbstractDihydropyrimidine dehydrogenase deficiency is an inborn error of pyrimidine metabolism characterised by thymine-uraciluria, convulsive disorders and developmental delay in paediatric patients, and an increased risk of toxicity from 5-fluorouracil treatment. This report is of the first patient with dihydropyrimidine dehydrogenase deficiency diagnosed in Hong Kong. The patient was a 2-day-old male neonate of Pakistani origin who presented with convulsions. Diagnosis was made by gas chromatographic-mass spectrometric detection of thymine-uraciluria and by molecular detection of a G to A point mutation in a 5′-splicing site leading to skipping of exon 14 in the DPYD gene of chromosome location 1q22. The results showed that the patient and his mother were homozygous and the father heterozygous for the splice site mutation. The mother also had thymine-uraciluria but was clinically asymptomatic.
Persistent Identifierhttp://hdl.handle.net/10722/148326
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279
References

 

DC FieldValueLanguage
dc.contributor.authorAu, KMen_US
dc.contributor.authorLai, CKen_US
dc.contributor.authorYuen, YPen_US
dc.contributor.authorShek, CCen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorChan, AYWen_US
dc.date.accessioned2012-05-29T06:12:14Z-
dc.date.available2012-05-29T06:12:14Z-
dc.date.issued2003en_US
dc.identifier.citationHong Kong Medical Journal, 2003, v. 9 n. 2, p. 130-132en_US
dc.identifier.issn1024-2708en_US
dc.identifier.urihttp://hdl.handle.net/10722/148326-
dc.description.abstractDihydropyrimidine dehydrogenase deficiency is an inborn error of pyrimidine metabolism characterised by thymine-uraciluria, convulsive disorders and developmental delay in paediatric patients, and an increased risk of toxicity from 5-fluorouracil treatment. This report is of the first patient with dihydropyrimidine dehydrogenase deficiency diagnosed in Hong Kong. The patient was a 2-day-old male neonate of Pakistani origin who presented with convulsions. Diagnosis was made by gas chromatographic-mass spectrometric detection of thymine-uraciluria and by molecular detection of a G to A point mutation in a 5′-splicing site leading to skipping of exon 14 in the DPYD gene of chromosome location 1q22. The results showed that the patient and his mother were homozygous and the father heterozygous for the splice site mutation. The mother also had thymine-uraciluria but was clinically asymptomatic.en_US
dc.languageengen_US
dc.publisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.htmlen_US
dc.relation.ispartofHong Kong Medical Journalen_US
dc.subject.meshDihydrouracil Dehydrogenase (Nadp)en_US
dc.subject.meshGas Chromatography-Mass Spectrometryen_US
dc.subject.meshHumansen_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMaleen_US
dc.subject.meshOxidoreductases - Deficiency - Geneticsen_US
dc.subject.meshPoint Mutationen_US
dc.subject.meshPurine-Pyrimidine Metabolism, Inborn Errors - Diagnosis - Geneticsen_US
dc.subject.meshPyrimidines - Metabolismen_US
dc.subject.meshSeizures - Etiologyen_US
dc.subject.meshThymine - Urineen_US
dc.subject.meshUracil - Urineen_US
dc.titleDiagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluriaen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid12668826-
dc.identifier.scopuseid_2-s2.0-0037383832en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0037383832&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume9en_US
dc.identifier.issue2en_US
dc.identifier.spage130en_US
dc.identifier.epage132en_US
dc.publisher.placeHong Kongen_US

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