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Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation
We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative. Mutation analysis of the PNPO gene revealed a nove...
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| Published in: | Molecular genetics and metabolism reports 2016-03, Vol.6 (C), p.60-63 |
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| Main Authors: | , , , , , , |
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| cited_by | cdi_FETCH-LOGICAL-c525t-2ab1862602f07bbe493400e3a9820969d3262828a8895ddbe144735e3734d42d3 |
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| cites | cdi_FETCH-LOGICAL-c525t-2ab1862602f07bbe493400e3a9820969d3262828a8895ddbe144735e3734d42d3 |
| container_end_page | 63 |
| container_issue | C |
| container_start_page | 60 |
| container_title | Molecular genetics and metabolism reports |
| container_volume | 6 |
| creator | Jaeger, B. Abeling, N.G. Salomons, G.S. Struys, E.A. Simas-Mendes, M. Geukers, V.G. Poll-The, B.T. |
| description | We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative. Mutation analysis of the PNPO gene revealed a novel, homozygous, presumed pathogenic mutation (c.481C>T; p.(Arg161Cys)). Measurements of B6 vitamers in a CSF sample after pyridoxine administration revealed elevated pyridoxamine as the only metabolic marker for PNPO deficiency. With pyridoxine monotherapy the patient is seizure free and neurodevelopmental outcome at the age of 14months is normal. |
| doi_str_mv | 10.1016/j.ymgmr.2016.01.004 |
| format | article |
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Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative. Mutation analysis of the PNPO gene revealed a novel, homozygous, presumed pathogenic mutation (c.481C>T; p.(Arg161Cys)). Measurements of B6 vitamers in a CSF sample after pyridoxine administration revealed elevated pyridoxamine as the only metabolic marker for PNPO deficiency. With pyridoxine monotherapy the patient is seizure free and neurodevelopmental outcome at the age of 14months is normal.</description><identifier>ISSN: 2214-4269</identifier><identifier>EISSN: 2214-4269</identifier><identifier>DOI: 10.1016/j.ymgmr.2016.01.004</identifier><identifier>PMID: 27014579</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Antiquitin ; Epilepsy ; Neonatal ; PNPO ; Pyridoxal-phosphate ; Pyridoxine ; Short Communication</subject><ispartof>Molecular genetics and metabolism reports, 2016-03, Vol.6 (C), p.60-63</ispartof><rights>2016 The Authors</rights><rights>2016 The Authors 2016</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c525t-2ab1862602f07bbe493400e3a9820969d3262828a8895ddbe144735e3734d42d3</citedby><cites>FETCH-LOGICAL-c525t-2ab1862602f07bbe493400e3a9820969d3262828a8895ddbe144735e3734d42d3</cites><orcidid>0000-0001-6466-949X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789384/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S2214426916300040$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,3549,27924,27925,45780,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27014579$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jaeger, B.</creatorcontrib><creatorcontrib>Abeling, N.G.</creatorcontrib><creatorcontrib>Salomons, G.S.</creatorcontrib><creatorcontrib>Struys, E.A.</creatorcontrib><creatorcontrib>Simas-Mendes, M.</creatorcontrib><creatorcontrib>Geukers, V.G.</creatorcontrib><creatorcontrib>Poll-The, B.T.</creatorcontrib><title>Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation</title><title>Molecular genetics and metabolism reports</title><addtitle>Mol Genet Metab Rep</addtitle><description>We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative. Mutation analysis of the PNPO gene revealed a novel, homozygous, presumed pathogenic mutation (c.481C>T; p.(Arg161Cys)). Measurements of B6 vitamers in a CSF sample after pyridoxine administration revealed elevated pyridoxamine as the only metabolic marker for PNPO deficiency. With pyridoxine monotherapy the patient is seizure free and neurodevelopmental outcome at the age of 14months is normal.</description><subject>Antiquitin</subject><subject>Epilepsy</subject><subject>Neonatal</subject><subject>PNPO</subject><subject>Pyridoxal-phosphate</subject><subject>Pyridoxine</subject><subject>Short Communication</subject><issn>2214-4269</issn><issn>2214-4269</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>DOA</sourceid><recordid>eNp9kUtP3DAUhSNUVBDwCyqhLLuZ1K_4sWilCrUwEiqzaNeWY98MHiVxaicj0l9fw1AEm6587Xvud61ziuIDRhVGmH_aVUu_7WNF8qVCuEKIHRWnhGC2YoSrd6_qk-IipR1CCGNSU8LeFydEIMxqoU6L9WaJ3oUHP0AZIY1hSH4PJYy-gzEtpTVzAlc2S2nKIeyhK-9DH_4s2zCncvNjc1f282QmH4bz4rg1XYKL5_Os-PX928-rm9Xt3fX66uvtytaknlbENFhywhFpkWgaYIoyhIAaJQlSXDlKOJFEGilV7VwDmDFBa6CCMseIo2fF-sB1wez0GH1v4qKD8frpIcStNnHytgPNHBBMlaBOOmaAG2iNNMTWVjaqlW1mfTmwxrnpwVkYpmi6N9C3ncHf623YayakopJlwMdnQAy_Z0iT7n2y0HVmgOyQxkJwJLlQOEvpQWpjSClC-7IGI_2Yqd7pp0z1Y6YaYZ0zzVOXr3_4MvMvwSz4fBBA9nzvIepkPQwWnI9gp2yK_--Cv-76tEg</recordid><startdate>20160301</startdate><enddate>20160301</enddate><creator>Jaeger, B.</creator><creator>Abeling, N.G.</creator><creator>Salomons, G.S.</creator><creator>Struys, E.A.</creator><creator>Simas-Mendes, M.</creator><creator>Geukers, V.G.</creator><creator>Poll-The, B.T.</creator><general>Elsevier Inc</general><general>Elsevier</general><scope>6I.</scope><scope>AAFTH</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0001-6466-949X</orcidid></search><sort><creationdate>20160301</creationdate><title>Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation</title><author>Jaeger, B. ; Abeling, N.G. ; Salomons, G.S. ; Struys, E.A. ; Simas-Mendes, M. ; Geukers, V.G. ; Poll-The, B.T.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c525t-2ab1862602f07bbe493400e3a9820969d3262828a8895ddbe144735e3734d42d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Antiquitin</topic><topic>Epilepsy</topic><topic>Neonatal</topic><topic>PNPO</topic><topic>Pyridoxal-phosphate</topic><topic>Pyridoxine</topic><topic>Short Communication</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jaeger, B.</creatorcontrib><creatorcontrib>Abeling, N.G.</creatorcontrib><creatorcontrib>Salomons, G.S.</creatorcontrib><creatorcontrib>Struys, E.A.</creatorcontrib><creatorcontrib>Simas-Mendes, M.</creatorcontrib><creatorcontrib>Geukers, V.G.</creatorcontrib><creatorcontrib>Poll-The, B.T.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Molecular genetics and metabolism reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jaeger, B.</au><au>Abeling, N.G.</au><au>Salomons, G.S.</au><au>Struys, E.A.</au><au>Simas-Mendes, M.</au><au>Geukers, V.G.</au><au>Poll-The, B.T.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation</atitle><jtitle>Molecular genetics and metabolism reports</jtitle><addtitle>Mol Genet Metab Rep</addtitle><date>2016-03-01</date><risdate>2016</risdate><volume>6</volume><issue>C</issue><spage>60</spage><epage>63</epage><pages>60-63</pages><issn>2214-4269</issn><eissn>2214-4269</eissn><abstract>We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. 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| ispartof | Molecular genetics and metabolism reports, 2016-03, Vol.6 (C), p.60-63 |
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| language | eng |
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| source | ScienceDirect; PubMed (Medline) |
| subjects | Antiquitin Epilepsy Neonatal PNPO Pyridoxal-phosphate Pyridoxine Short Communication |
| title | Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation |
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