Variations in Porphobilinogen and 5-Aminolevulinic Acid Concentrations in Plasma and Urine from Asymptomatic Carriers of the Acute Intermittent Porphyria Gene with Increased Porphyrin Precursor Excretion
The heme precursors porphobilinogen (PBG) and 5-aminolevulinic acid (ALA) accumulate during overt crises of acute intermittent porphyria (AIP), and high excretion of these metabolites often continues in the asymptomatic phase. We measured concentrations of PBG and ALA and investigated the correlatio...
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| Veröffentlicht in: | Clinical chemistry (Baltimore, Md.) Md.), 2006-04, Vol.52 (4), p.701-707 |
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| creator | Floderus, Ylva Sardh, Eliane Moller, Christer Andersson, Claes Rejkjaer, Lillan Andersson, Dan E.H Harper, Pauline |
| description | The heme precursors porphobilinogen (PBG) and 5-aminolevulinic acid (ALA) accumulate during overt crises of acute intermittent porphyria (AIP), and high excretion of these metabolites often continues in the asymptomatic phase.
We measured concentrations of PBG and ALA and investigated the correlation between these metabolites in plasma and urine in 10 asymptomatic AIP carriers with high excretion and in 5 healthy individuals. We quantified plasma concentrations with an HPLC-mass spectrometric method and urine concentrations with ion-exchange chromatography.
The mean (SD) plasma concentrations of PBG and ALA in the AIP carriers were 3.1 (1.0) and 1.7 (0.7) micromol/L, respectively. The mean 8-h urinary excretion amounts of PBG and ALA in the AIP carriers were 102 (25) and 56 (18) micromol, respectively, whereas the corresponding values for healthy individuals were 2.9 (0.7) and 9.3 (1.2) micromol. The correlations between PBG and ALA values in plasma and urine of the AIP carriers were 0.678 and 0.856, respectively. The mean PBG/ALA ratio was approximately 2.0 in both plasma and urine for the AIP carriers and 0.3 in urine for the healthy individuals. The renal clearance rates for PBG and ALA were 71 (15) and 70 (13) mL/min, respectively.
The described HPLC-mass spectrometric method enabled characterization of variations in plasma PBG and ALA in AIP carriers during an 8-h period. The renal clearances were similar for both metabolites. This method could be used to monitor AIP patients during treatment. |
| doi_str_mv | 10.1373/clinchem.2005.058198 |
| format | Article |
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We measured concentrations of PBG and ALA and investigated the correlation between these metabolites in plasma and urine in 10 asymptomatic AIP carriers with high excretion and in 5 healthy individuals. We quantified plasma concentrations with an HPLC-mass spectrometric method and urine concentrations with ion-exchange chromatography.
The mean (SD) plasma concentrations of PBG and ALA in the AIP carriers were 3.1 (1.0) and 1.7 (0.7) micromol/L, respectively. The mean 8-h urinary excretion amounts of PBG and ALA in the AIP carriers were 102 (25) and 56 (18) micromol, respectively, whereas the corresponding values for healthy individuals were 2.9 (0.7) and 9.3 (1.2) micromol. The correlations between PBG and ALA values in plasma and urine of the AIP carriers were 0.678 and 0.856, respectively. The mean PBG/ALA ratio was approximately 2.0 in both plasma and urine for the AIP carriers and 0.3 in urine for the healthy individuals. The renal clearance rates for PBG and ALA were 71 (15) and 70 (13) mL/min, respectively.
The described HPLC-mass spectrometric method enabled characterization of variations in plasma PBG and ALA in AIP carriers during an 8-h period. The renal clearances were similar for both metabolites. This method could be used to monitor AIP patients during treatment.</description><identifier>ISSN: 0009-9147</identifier><identifier>EISSN: 1530-8561</identifier><identifier>DOI: 10.1373/clinchem.2005.058198</identifier><identifier>PMID: 16497943</identifier><identifier>CODEN: CLCHAU</identifier><language>eng</language><publisher>Washington, DC: Am Assoc Clin Chem</publisher><subject>Adult ; Aminolevulinic Acid - blood ; Aminolevulinic Acid - urine ; Analytical, structural and metabolic biochemistry ; Asymptomatic ; Biological and medical sciences ; Chromatography ; Chromatography, High Pressure Liquid ; Creatinine ; Enzymes ; Excretion ; Female ; Fundamental and applied biological sciences. Psychology ; Heterozygote ; Humans ; Investigative techniques, diagnostic techniques (general aspects) ; Liquid chromatography ; Male ; Mass Spectrometry ; Medical sciences ; Metabolites ; Middle Aged ; Plasma ; Porphobilinogen - blood ; Porphobilinogen - urine ; Porphyria, Acute Intermittent - genetics ; Remission (Medicine) ; Urine ; Womens health</subject><ispartof>Clinical chemistry (Baltimore, Md.), 2006-04, Vol.52 (4), p.701-707</ispartof><rights>2006 INIST-CNRS</rights><rights>Copyright American Association for Clinical Chemistry Apr 2006</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c507t-707aea5f26248c91f23828425cdb5bae1211b7329a8dab568728a66636724e793</citedby><cites>FETCH-LOGICAL-c507t-707aea5f26248c91f23828425cdb5bae1211b7329a8dab568728a66636724e793</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,777,781,882,27905,27906</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17691484$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16497943$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:1961516$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><creatorcontrib>Floderus, Ylva</creatorcontrib><creatorcontrib>Sardh, Eliane</creatorcontrib><creatorcontrib>Moller, Christer</creatorcontrib><creatorcontrib>Andersson, Claes</creatorcontrib><creatorcontrib>Rejkjaer, Lillan</creatorcontrib><creatorcontrib>Andersson, Dan E.H</creatorcontrib><creatorcontrib>Harper, Pauline</creatorcontrib><title>Variations in Porphobilinogen and 5-Aminolevulinic Acid Concentrations in Plasma and Urine from Asymptomatic Carriers of the Acute Intermittent Porphyria Gene with Increased Porphyrin Precursor Excretion</title><title>Clinical chemistry (Baltimore, Md.)</title><addtitle>Clin Chem</addtitle><description>The heme precursors porphobilinogen (PBG) and 5-aminolevulinic acid (ALA) accumulate during overt crises of acute intermittent porphyria (AIP), and high excretion of these metabolites often continues in the asymptomatic phase.
We measured concentrations of PBG and ALA and investigated the correlation between these metabolites in plasma and urine in 10 asymptomatic AIP carriers with high excretion and in 5 healthy individuals. We quantified plasma concentrations with an HPLC-mass spectrometric method and urine concentrations with ion-exchange chromatography.
The mean (SD) plasma concentrations of PBG and ALA in the AIP carriers were 3.1 (1.0) and 1.7 (0.7) micromol/L, respectively. The mean 8-h urinary excretion amounts of PBG and ALA in the AIP carriers were 102 (25) and 56 (18) micromol, respectively, whereas the corresponding values for healthy individuals were 2.9 (0.7) and 9.3 (1.2) micromol. The correlations between PBG and ALA values in plasma and urine of the AIP carriers were 0.678 and 0.856, respectively. The mean PBG/ALA ratio was approximately 2.0 in both plasma and urine for the AIP carriers and 0.3 in urine for the healthy individuals. The renal clearance rates for PBG and ALA were 71 (15) and 70 (13) mL/min, respectively.
The described HPLC-mass spectrometric method enabled characterization of variations in plasma PBG and ALA in AIP carriers during an 8-h period. The renal clearances were similar for both metabolites. This method could be used to monitor AIP patients during treatment.</description><subject>Adult</subject><subject>Aminolevulinic Acid - blood</subject><subject>Aminolevulinic Acid - urine</subject><subject>Analytical, structural and metabolic biochemistry</subject><subject>Asymptomatic</subject><subject>Biological and medical sciences</subject><subject>Chromatography</subject><subject>Chromatography, High Pressure Liquid</subject><subject>Creatinine</subject><subject>Enzymes</subject><subject>Excretion</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Investigative techniques, diagnostic techniques (general aspects)</subject><subject>Liquid chromatography</subject><subject>Male</subject><subject>Mass Spectrometry</subject><subject>Medical sciences</subject><subject>Metabolites</subject><subject>Middle Aged</subject><subject>Plasma</subject><subject>Porphobilinogen - blood</subject><subject>Porphobilinogen - urine</subject><subject>Porphyria, Acute Intermittent - genetics</subject><subject>Remission (Medicine)</subject><subject>Urine</subject><subject>Womens health</subject><issn>0009-9147</issn><issn>1530-8561</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFks1u1DAUhSMEoqXwBghZSLDL4H8ny9GolEqVYEHZWo5z07gk9mAnhHlGXgoPM3QQGza27_V3jq-lUxQvCV4Rptg7OzhvexhXFGOxwqIidfWoOCeC4bISkjwuzjHGdVkTrs6KZynd55KrSj4tzojktao5Oy9-fjHRmckFn5Dz6FOI2z40LnuHO_DI-BaJcj3mcoDvc247i9bWtWgTvAU_xb-0g0mj-S25jc4D6mIY0Trtxu0UxsxZtDExOogJhQ5NPWSneQJ07SeIo5um7HeYYJdnQleQPRY39RmwEUyC9uE2vxbBzjGFiC5_5Nv9FM-LJ50ZErw47hfF7fvLz5sP5c3Hq-vN-qa0AqupVFgZMKKjkvLK1qSjrKIVp8K2jWgMEEpIoxitTdWaRshK0cpIKZlUlIOq2UVRHnzTAtu50dvoRhN3Ohinj62v-QRaKKm4yvzbA7-N4dsMadKjSxaGwXgIc9JSVYypvPwPJIpQrjjL4Ot_wPswR58_rSnhGEsu9278ANkYUorQPQxKsN5HSP-JkN5HSB8ilGWvjt5zM0J7Eh0zk4E3R8Aka4YuGm9dOnFK5shV_MT17q5fXASd4zEM2ZboZVkE1VwrTNgv5PPibg</recordid><startdate>20060401</startdate><enddate>20060401</enddate><creator>Floderus, Ylva</creator><creator>Sardh, Eliane</creator><creator>Moller, Christer</creator><creator>Andersson, Claes</creator><creator>Rejkjaer, Lillan</creator><creator>Andersson, Dan E.H</creator><creator>Harper, Pauline</creator><general>Am Assoc Clin Chem</general><general>American Association for Clinical Chemistry</general><general>Oxford University Press</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>4U-</scope><scope>7QO</scope><scope>7RV</scope><scope>7TM</scope><scope>7U7</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88I</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>BKSAR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>NAPCQ</scope><scope>P64</scope><scope>PCBAR</scope><scope>PDBOC</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>S0X</scope><scope>7X8</scope><scope>ADTPV</scope><scope>AOWAS</scope></search><sort><creationdate>20060401</creationdate><title>Variations in Porphobilinogen and 5-Aminolevulinic Acid Concentrations in Plasma and Urine from Asymptomatic Carriers of the Acute Intermittent Porphyria Gene with Increased Porphyrin Precursor Excretion</title><author>Floderus, Ylva ; Sardh, Eliane ; Moller, Christer ; Andersson, Claes ; Rejkjaer, Lillan ; Andersson, Dan E.H ; Harper, Pauline</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c507t-707aea5f26248c91f23828425cdb5bae1211b7329a8dab568728a66636724e793</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Adult</topic><topic>Aminolevulinic Acid - blood</topic><topic>Aminolevulinic Acid - urine</topic><topic>Analytical, structural and metabolic biochemistry</topic><topic>Asymptomatic</topic><topic>Biological and medical sciences</topic><topic>Chromatography</topic><topic>Chromatography, High Pressure Liquid</topic><topic>Creatinine</topic><topic>Enzymes</topic><topic>Excretion</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Investigative techniques, diagnostic techniques (general aspects)</topic><topic>Liquid chromatography</topic><topic>Male</topic><topic>Mass Spectrometry</topic><topic>Medical sciences</topic><topic>Metabolites</topic><topic>Middle Aged</topic><topic>Plasma</topic><topic>Porphobilinogen - blood</topic><topic>Porphobilinogen - urine</topic><topic>Porphyria, Acute Intermittent - genetics</topic><topic>Remission (Medicine)</topic><topic>Urine</topic><topic>Womens health</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Floderus, Ylva</creatorcontrib><creatorcontrib>Sardh, Eliane</creatorcontrib><creatorcontrib>Moller, Christer</creatorcontrib><creatorcontrib>Andersson, Claes</creatorcontrib><creatorcontrib>Rejkjaer, Lillan</creatorcontrib><creatorcontrib>Andersson, Dan E.H</creatorcontrib><creatorcontrib>Harper, Pauline</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>University Readers</collection><collection>Biotechnology Research Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Nucleic Acids Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Natural Science Collection</collection><collection>Earth, Atmospheric & Aquatic Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Materials Science Collection</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Materials Science Database</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Earth, Atmospheric & Aquatic Science Database</collection><collection>Materials Science Collection</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>SIRS Editorial</collection><collection>MEDLINE - Academic</collection><collection>SwePub</collection><collection>SwePub Articles</collection><jtitle>Clinical chemistry (Baltimore, Md.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Floderus, Ylva</au><au>Sardh, Eliane</au><au>Moller, Christer</au><au>Andersson, Claes</au><au>Rejkjaer, Lillan</au><au>Andersson, Dan E.H</au><au>Harper, Pauline</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Variations in Porphobilinogen and 5-Aminolevulinic Acid Concentrations in Plasma and Urine from Asymptomatic Carriers of the Acute Intermittent Porphyria Gene with Increased Porphyrin Precursor Excretion</atitle><jtitle>Clinical chemistry (Baltimore, Md.)</jtitle><addtitle>Clin Chem</addtitle><date>2006-04-01</date><risdate>2006</risdate><volume>52</volume><issue>4</issue><spage>701</spage><epage>707</epage><pages>701-707</pages><issn>0009-9147</issn><eissn>1530-8561</eissn><coden>CLCHAU</coden><abstract>The heme precursors porphobilinogen (PBG) and 5-aminolevulinic acid (ALA) accumulate during overt crises of acute intermittent porphyria (AIP), and high excretion of these metabolites often continues in the asymptomatic phase.
We measured concentrations of PBG and ALA and investigated the correlation between these metabolites in plasma and urine in 10 asymptomatic AIP carriers with high excretion and in 5 healthy individuals. We quantified plasma concentrations with an HPLC-mass spectrometric method and urine concentrations with ion-exchange chromatography.
The mean (SD) plasma concentrations of PBG and ALA in the AIP carriers were 3.1 (1.0) and 1.7 (0.7) micromol/L, respectively. The mean 8-h urinary excretion amounts of PBG and ALA in the AIP carriers were 102 (25) and 56 (18) micromol, respectively, whereas the corresponding values for healthy individuals were 2.9 (0.7) and 9.3 (1.2) micromol. The correlations between PBG and ALA values in plasma and urine of the AIP carriers were 0.678 and 0.856, respectively. The mean PBG/ALA ratio was approximately 2.0 in both plasma and urine for the AIP carriers and 0.3 in urine for the healthy individuals. The renal clearance rates for PBG and ALA were 71 (15) and 70 (13) mL/min, respectively.
The described HPLC-mass spectrometric method enabled characterization of variations in plasma PBG and ALA in AIP carriers during an 8-h period. The renal clearances were similar for both metabolites. This method could be used to monitor AIP patients during treatment.</abstract><cop>Washington, DC</cop><pub>Am Assoc Clin Chem</pub><pmid>16497943</pmid><doi>10.1373/clinchem.2005.058198</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Clinical chemistry (Baltimore, Md.), 2006-04, Vol.52 (4), p.701-707 |
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| language | eng |
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| source | MEDLINE; Oxford University Press Journals All Titles (1996-Current) |
| subjects | Adult Aminolevulinic Acid - blood Aminolevulinic Acid - urine Analytical, structural and metabolic biochemistry Asymptomatic Biological and medical sciences Chromatography Chromatography, High Pressure Liquid Creatinine Enzymes Excretion Female Fundamental and applied biological sciences. Psychology Heterozygote Humans Investigative techniques, diagnostic techniques (general aspects) Liquid chromatography Male Mass Spectrometry Medical sciences Metabolites Middle Aged Plasma Porphobilinogen - blood Porphobilinogen - urine Porphyria, Acute Intermittent - genetics Remission (Medicine) Urine Womens health |
| title | Variations in Porphobilinogen and 5-Aminolevulinic Acid Concentrations in Plasma and Urine from Asymptomatic Carriers of the Acute Intermittent Porphyria Gene with Increased Porphyrin Precursor Excretion |
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