An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
Identifieur interne : 000624 ( PubMed/Corpus ); précédent : 000623; suivant : 000625An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
Auteurs : Matthew P. Wilson ; Emma J. Footitt ; Apostolos Papandreou ; Mari-Liis Uudelepp ; Ronit Pressler ; Danielle C. Stevenson ; Camila Gabriel ; Mel Mcsweeney ; Matthew Baggot ; Derek Burke ; Tommy Stödberg ; Kate Riney ; Manuel Schiff ; Simon J R. Heales ; Kevin A. Mills ; Paul Gissen ; Peter T. Clayton ; Philippa B. MillsSource :
- Analytical chemistry [ 1520-6882 ] ; 2017.
Abstract
We report the development of a rapid, simple, and robust LC-MS/MS-based enzyme assay using dried blood spots (DBS) for the diagnosis of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency (OMIM 610090). PNPO deficiency leads to potentially fatal early infantile epileptic encephalopathy, severe developmental delay, and other features of neurological dysfunction. However, upon prompt treatment with high doses of vitamin B6, affected patients can have a normal developmental outcome. Prognosis of these patients is therefore reliant upon a rapid diagnosis. PNPO activity was quantified by measuring pyridoxal 5'-phosphate (PLP) concentrations in a DBS before and after a 30 min incubation with pyridoxine 5'-phosphate (PNP). Samples from 18 PNPO deficient patients (1 day-25 years), 13 children with other seizure disorders receiving B6 supplementation (1 month-16 years), and 37 child hospital controls (5 days-15 years) were analyzed. DBS from the PNPO-deficient samples showed enzyme activity levels lower than all samples from these two other groups as well as seven adult controls; no false positives or negatives were identified. The method was fully validated and is suitable for translation into the clinical diagnostic arena.
DOI: 10.1021/acs.analchem.7b01358
PubMed: 28782931
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.</title><author><name sortKey="Wilson, Matthew P" sort="Wilson, Matthew P" uniqKey="Wilson M" first="Matthew P" last="Wilson">Matthew P. Wilson</name><affiliation><nlm:affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Footitt, Emma J" sort="Footitt, Emma J" uniqKey="Footitt E" first="Emma J" last="Footitt">Emma J. Footitt</name></author><author><name sortKey="Papandreou, Apostolos" sort="Papandreou, Apostolos" uniqKey="Papandreou A" first="Apostolos" last="Papandreou">Apostolos Papandreou</name><affiliation><nlm:affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Uudelepp, Mari Liis" sort="Uudelepp, Mari Liis" uniqKey="Uudelepp M" first="Mari-Liis" last="Uudelepp">Mari-Liis Uudelepp</name><affiliation><nlm:affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Pressler, Ronit" sort="Pressler, Ronit" uniqKey="Pressler R" first="Ronit" last="Pressler">Ronit Pressler</name></author><author><name sortKey="Stevenson, Danielle C" sort="Stevenson, Danielle C" uniqKey="Stevenson D" first="Danielle C" last="Stevenson">Danielle C. 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Heales</name><affiliation><nlm:affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Mills, Kevin A" sort="Mills, Kevin A" uniqKey="Mills K" first="Kevin A" last="Mills">Kevin A. Mills</name><affiliation><nlm:affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Gissen, Paul" sort="Gissen, Paul" uniqKey="Gissen P" first="Paul" last="Gissen">Paul Gissen</name><affiliation><nlm:affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Clayton, Peter T" sort="Clayton, Peter T" uniqKey="Clayton P" first="Peter T" last="Clayton">Peter T. Clayton</name><affiliation><nlm:affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Mills, Philippa B" sort="Mills, Philippa B" uniqKey="Mills P" first="Philippa B" last="Mills">Philippa B. Mills</name><affiliation><nlm:affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28782931</idno><idno type="pmid">28782931</idno><idno type="doi">10.1021/acs.analchem.7b01358</idno><idno type="wicri:Area/PubMed/Corpus">000624</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000624</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.</title><author><name sortKey="Wilson, Matthew P" sort="Wilson, Matthew P" uniqKey="Wilson M" first="Matthew P" last="Wilson">Matthew P. Wilson</name><affiliation><nlm:affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Footitt, Emma J" sort="Footitt, Emma J" uniqKey="Footitt E" first="Emma J" last="Footitt">Emma J. Footitt</name></author><author><name sortKey="Papandreou, Apostolos" sort="Papandreou, Apostolos" uniqKey="Papandreou A" first="Apostolos" last="Papandreou">Apostolos Papandreou</name><affiliation><nlm:affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Uudelepp, Mari Liis" sort="Uudelepp, Mari Liis" uniqKey="Uudelepp M" first="Mari-Liis" last="Uudelepp">Mari-Liis Uudelepp</name><affiliation><nlm:affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Pressler, Ronit" sort="Pressler, Ronit" uniqKey="Pressler R" first="Ronit" last="Pressler">Ronit Pressler</name></author><author><name sortKey="Stevenson, Danielle C" sort="Stevenson, Danielle C" uniqKey="Stevenson D" first="Danielle C" last="Stevenson">Danielle C. Stevenson</name></author><author><name sortKey="Gabriel, Camila" sort="Gabriel, Camila" uniqKey="Gabriel C" first="Camila" last="Gabriel">Camila Gabriel</name></author><author><name sortKey="Mcsweeney, Mel" sort="Mcsweeney, Mel" uniqKey="Mcsweeney M" first="Mel" last="Mcsweeney">Mel Mcsweeney</name></author><author><name sortKey="Baggot, Matthew" sort="Baggot, Matthew" uniqKey="Baggot M" first="Matthew" last="Baggot">Matthew Baggot</name></author><author><name sortKey="Burke, Derek" sort="Burke, Derek" uniqKey="Burke D" first="Derek" last="Burke">Derek Burke</name></author><author><name sortKey="Stodberg, Tommy" sort="Stodberg, Tommy" uniqKey="Stodberg T" first="Tommy" last="Stödberg">Tommy Stödberg</name><affiliation><nlm:affiliation>Neuropediatric Unit, Karolinska University Hospital , Stockholm SE-171 76, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Riney, Kate" sort="Riney, Kate" uniqKey="Riney K" first="Kate" last="Riney">Kate Riney</name><affiliation><nlm:affiliation>Neurosciences Unit, The Lady Cilento Children's Hospital , 501 Stanley Street, South Brisbane, Queensland 4101, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Schiff, Manuel" sort="Schiff, Manuel" uniqKey="Schiff M" first="Manuel" last="Schiff">Manuel Schiff</name><affiliation><nlm:affiliation>Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital , APHP, Paris 75019, France.</nlm:affiliation></affiliation></author><author><name sortKey="Heales, Simon J R" sort="Heales, Simon J R" uniqKey="Heales S" first="Simon J R" last="Heales">Simon J R. Heales</name><affiliation><nlm:affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Mills, Kevin A" sort="Mills, Kevin A" uniqKey="Mills K" first="Kevin A" last="Mills">Kevin A. Mills</name><affiliation><nlm:affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Gissen, Paul" sort="Gissen, Paul" uniqKey="Gissen P" first="Paul" last="Gissen">Paul Gissen</name><affiliation><nlm:affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Clayton, Peter T" sort="Clayton, Peter T" uniqKey="Clayton P" first="Peter T" last="Clayton">Peter T. Clayton</name><affiliation><nlm:affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Mills, Philippa B" sort="Mills, Philippa B" uniqKey="Mills P" first="Philippa B" last="Mills">Philippa B. Mills</name><affiliation><nlm:affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Analytical chemistry</title><idno type="eISSN">1520-6882</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report the development of a rapid, simple, and robust LC-MS/MS-based enzyme assay using dried blood spots (DBS) for the diagnosis of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency (OMIM 610090). PNPO deficiency leads to potentially fatal early infantile epileptic encephalopathy, severe developmental delay, and other features of neurological dysfunction. However, upon prompt treatment with high doses of vitamin B6, affected patients can have a normal developmental outcome. Prognosis of these patients is therefore reliant upon a rapid diagnosis. PNPO activity was quantified by measuring pyridoxal 5'-phosphate (PLP) concentrations in a DBS before and after a 30 min incubation with pyridoxine 5'-phosphate (PNP). Samples from 18 PNPO deficient patients (1 day-25 years), 13 children with other seizure disorders receiving B6 supplementation (1 month-16 years), and 37 child hospital controls (5 days-15 years) were analyzed. DBS from the PNPO-deficient samples showed enzyme activity levels lower than all samples from these two other groups as well as seven adult controls; no false positives or negatives were identified. The method was fully validated and is suitable for translation into the clinical diagnostic arena.</div></front></TEI><pubmed><MedlineCitation Status="In-Data-Review" Owner="NLM"><PMID Version="1">28782931</PMID><DateCreated><Year>2017</Year><Month>08</Month><Day>07</Day></DateCreated><DateRevised><Year>2017</Year><Month>09</Month><Day>13</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1520-6882</ISSN><JournalIssue CitedMedium="Internet"><Volume>89</Volume><Issue>17</Issue><PubDate><Year>2017</Year><Month>Sep</Month><Day>05</Day></PubDate></JournalIssue><Title>Analytical chemistry</Title><ISOAbbreviation>Anal. Chem.</ISOAbbreviation></Journal><ArticleTitle>An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.</ArticleTitle><Pagination><MedlinePgn>8892-8900</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1021/acs.analchem.7b01358</ELocationID><Abstract><AbstractText>We report the development of a rapid, simple, and robust LC-MS/MS-based enzyme assay using dried blood spots (DBS) for the diagnosis of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency (OMIM 610090). PNPO deficiency leads to potentially fatal early infantile epileptic encephalopathy, severe developmental delay, and other features of neurological dysfunction. However, upon prompt treatment with high doses of vitamin B6, affected patients can have a normal developmental outcome. Prognosis of these patients is therefore reliant upon a rapid diagnosis. PNPO activity was quantified by measuring pyridoxal 5'-phosphate (PLP) concentrations in a DBS before and after a 30 min incubation with pyridoxine 5'-phosphate (PNP). Samples from 18 PNPO deficient patients (1 day-25 years), 13 children with other seizure disorders receiving B6 supplementation (1 month-16 years), and 37 child hospital controls (5 days-15 years) were analyzed. DBS from the PNPO-deficient samples showed enzyme activity levels lower than all samples from these two other groups as well as seven adult controls; no false positives or negatives were identified. The method was fully validated and is suitable for translation into the clinical diagnostic arena.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Wilson</LastName><ForeName>Matthew P</ForeName><Initials>MP</Initials><Identifier Source="ORCID">http://orcid.org/0000-0003-2252-8730</Identifier><AffiliationInfo><Affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Footitt</LastName><ForeName>Emma J</ForeName><Initials>EJ</Initials></Author><Author ValidYN="Y"><LastName>Papandreou</LastName><ForeName>Apostolos</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Uudelepp</LastName><ForeName>Mari-Liis</ForeName><Initials>ML</Initials><AffiliationInfo><Affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pressler</LastName><ForeName>Ronit</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Stevenson</LastName><ForeName>Danielle C</ForeName><Initials>DC</Initials></Author><Author ValidYN="Y"><LastName>Gabriel</LastName><ForeName>Camila</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>McSweeney</LastName><ForeName>Mel</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Baggot</LastName><ForeName>Matthew</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Burke</LastName><ForeName>Derek</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Stödberg</LastName><ForeName>Tommy</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Neuropediatric Unit, Karolinska University Hospital , Stockholm SE-171 76, Sweden.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Riney</LastName><ForeName>Kate</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Neurosciences Unit, The Lady Cilento Children's Hospital , 501 Stanley Street, South Brisbane, Queensland 4101, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schiff</LastName><ForeName>Manuel</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital , APHP, Paris 75019, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Heales</LastName><ForeName>Simon J R</ForeName><Initials>SJR</Initials><AffiliationInfo><Affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Neurometabolic Unit, National Hospital for Neurology and Neurosurgery , Queen Square, London WC1N 3BG, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mills</LastName><ForeName>Kevin A</ForeName><Initials>KA</Initials><Identifier Source="ORCID">http://orcid.org/0000-0003-0763-8288</Identifier><AffiliationInfo><Affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gissen</LastName><ForeName>Paul</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Clayton</LastName><ForeName>Peter T</ForeName><Initials>PT</Initials><AffiliationInfo><Affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mills</LastName><ForeName>Philippa B</ForeName><Initials>PB</Initials><AffiliationInfo><Affiliation>Genetics and Genomic Medicine, UCL GOS Institute of Child Health , 30 Guilford Street, London WC1N 1EH, United Kingdom.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>08</Month><Day>17</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Anal 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15;101(2):435-41</RefSource><PMID Version="1">7362038</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Child Neurol. 1996 Jan;11(1):35-40</RefSource><PMID Version="1">8745383</PMID></CommentsCorrections></CommentsCorrectionsList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>8</Month><Day>8</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>8</Month><Day>8</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>8</Month><Day>8</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28782931</ArticleId><ArticleId IdType="doi">10.1021/acs.analchem.7b01358</ArticleId><ArticleId IdType="pmc">PMC5588098</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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