metylmalonat-mma (LH Indholdsside)

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      <HtmlField Name="PageContent"><![CDATA[<h2>Definition</h2>
<ul>
    <li>&nbsp;Koncentrationen af metylmalonat (MMA) i plasma, m&aring;lt i mikromol per liter (&micro;mol/L)</li>
</ul>
<h2>Synonymer</h2>
<ul>
    <li>Methylmalonat; Metylmalonsyre; MMA</li>
</ul>
<h2>Indikationer<a href=" " data-type="book-reference" data-value="Lyngbye J. Lyngbyes laboratoriemedicin. København: Nyt Nordisk Forlag; 2010" data-value-piped="Lyngbye J|Lyngbyes laboratoriemedicin|København|Nyt Nordisk Forlag|2010" data-url="reference-link" title="Lyngbye J. Lyngbyes laboratoriemedicin. København: Nyt Nordisk Forlag; 2010"><sup>1</sup></a><sup>,</sup><a href="EditorPage.aspx?da=core&amp;id=%7BA045C13E-28B5-473B-BEE1-8AADDB31AADE%7D&amp;ed=FIELD2956752340&amp;vs&amp;la=da&amp;fld=%7B850D32D3-55A1-49E4-9CDF-F0C88D91563C%7D&amp;so=%2Fsitecore%2Fsystem%2FSettings%2FHtml%20Editor%20Profiles%2FRich%20Text%20LHPH&amp;di=0&amp;hdl=H2956752404&amp;mo&amp;pe=0&amp;fbd=1" data-type="journal-reference" data-value="Nielsen S, Parkner T, Arendt JFH, Vitamin B12 deficiency: correction of P-methylmalonic acid for estimated glomerular filtration rate to improve diagnostic value - a confirmatory study. Scand J Clin Lab Invest 2022;82: 323-328" data-value-piped="Nielsen S, Parkner T, Arendt JFH|Vitamin B12 deficiency: correction of P-methylmalonic acid for estimated glomerular filtration rate to improve diagnostic value - a confirmatory study.|Scand J Clin Lab Invest|2022|82|323-328|35822404" data-url="reference-link" data-pubmedid="35822404" title="Nielsen S, Parkner T, Arendt JFH, Vitamin B12 deficiency: correction of P-methylmalonic acid for estimated glomerular filtration rate to improve diagnostic value - a confirmatory study. Scand J Clin Lab Invest 2022;82: 323-328"><sup>2</sup></a></h2>
<ul>
    <li>En del laboratorier tilbyder en dynamisk unders&oslash;gelse (refleks-test) for B12-mangel, som udl&oslash;ser MMA afh&aelig;ngigt af cobalamin-niveau. P&aring; enkelte laboratorier tager refleks-testen ogs&aring; h&oslash;jde for alder og nyrefunktion&nbsp;</li>
    <li>MMA er en dyr analyse og ved mistanke om&nbsp;<a href="~/link.aspx?_id=607B515C63D64C2483609169CD92CE8E&amp;_z=z">vitamin B12-mangel</a>&nbsp;b&oslash;r den kun udf&oslash;res i de tilf&aelig;lde, hvor&nbsp;m&aring;ling af&nbsp;<a href="~/link.aspx?_id=5EAE43BDE2D44744A3590D1942A599AB&amp;_z=z">vitamin B12 (cobalamin)</a>&nbsp;ikke med sikkerhed udelukker eller p&aring;viser tilstanden. Laboratoriernes refleks-tests underst&oslash;tter dette</li>
    <li>MMA kan v&aelig;re v&aelig;rdifuld ved mistanke om vitamin B12-mangel hos gravide</li>
    <li>MMA kan ogs&aring; v&aelig;re v&aelig;rdifuld ved mistanke om vitamin B12-mangel hos patienter med kronisk myeloprofilerativ sygdom (is&aelig;r&nbsp;<a href="~/link.aspx?_id=2E232CB2AFD34E3B9A8A852F26E4B42B&amp;_z=z">polycyt&aelig;mia vera</a>,&nbsp;<a href="~/link.aspx?_id=FC9ED29710D841B5AB96711954826E58&amp;_z=z">prim&aelig;r myelofibrose</a>&nbsp;og&nbsp;<a href="~/link.aspx?_id=D203C807E8664DBC85CF0708A954B5A3&amp;_z=z">kronisk myeloid leuk&aelig;mi</a>), hvor plasmakoncentrationen af vitamin B12 kan v&aelig;re falsk normal eller endog falsk forh&oslash;jet, trods veludtalt B12-mangel</li>
    <li>MMA indg&aring;r i screening af nyf&oslash;dte for medf&oslash;dte enzymdefekter (methylmalonsyre&aelig;mi). Der anvendes materiale fra PKU-kortet</li>
    <li>MMA b&oslash;r ikke anvendes til vurdering af behandlingseffekt</li>
</ul>
<h2>Fortolkninger<a href="EditorPage.aspx?da=core&amp;id=%7BA045C13E-28B5-473B-BEE1-8AADDB31AADE%7D&amp;ed=FIELD9969289815&amp;vs&amp;la=da&amp;fld=%7B850D32D3-55A1-49E4-9CDF-F0C88D91563C%7D&amp;so=%2Fsitecore%2Fsystem%2FSettings%2FHtml%20Editor%20Profiles%2FRich%20Text%20LHPH&amp;di=0&amp;hdl=H9969289875&amp;us=sitecore%5Cneho&amp;mo&amp;pe=0&amp;fbd=1" data-type="journal-reference" data-value="Jarquin Campos A, Risch L, Nydegger U, Wiesner J, Vazquez Van Dyck M, Renz H, Stanga Z, Risch M, Diagnostic Accuracy of Holotranscobalamin, Vitamin B12, Methylmalonic Acid, and Homocysteine in Detecting B12 Deficiency in a Large, Mixed Patient Population. Dis Markers 2020;2020: 7468506" data-value-piped="Jarquin Campos A, Risch L, Nydegger U, Wiesner J, Vazquez Van Dyck M, Renz H, Stanga Z, Risch M|Diagnostic Accuracy of Holotranscobalamin, Vitamin B12, Methylmalonic Acid, and Homocysteine in Detecting B12 Deficiency in a Large, Mixed Patient Population.|Dis Markers|2020|2020|7468506|32089757" data-url="reference-link" data-pubmedid="32089757" title="Jarquin Campos A, Risch L, Nydegger U, Wiesner J, Vazquez Van Dyck M, Renz H, Stanga Z, Risch M, Diagnostic Accuracy of Holotranscobalamin, Vitamin B12, Methylmalonic Acid, and Homocysteine in Detecting B12 Deficiency in a Large, Mixed Patient Population. Dis Markers 2020;2020: 7468506"><sup>3</sup></a></h2>
<h3>Tydeligt forh&oslash;jede v&aelig;rdier (over 0,75 &micro;mol/L)</h3>
<ul>
    <li>Vitamin B12-mangel: MMA er h&oslash;jere, jo mere udtalt manglen er
    <ul>
        <li>Ved nedsat nyrefunktion skyldes et forh&oslash;jet MMA ikke n&oslash;dvendigvis B12-mangel. Dog, MMA v&aelig;rdier st&oslash;rre end 1,0 - 1,5&nbsp;&micro;mol/L foranlediges sj&aelig;ldent af nedsat nyrefunktion i sig selv</li>
        <li>Plasmakoncentrationen af&nbsp;<a href="~/link.aspx?_id=5EAE43BDE2D44744A3590D1942A599AB&amp;_z=z">vitamin B12 (cobalamin)</a>&nbsp;vil typisk ogs&aring; v&aelig;re nedsat</li>
    </ul>
    </li>
</ul>
<h3>Let forh&oslash;jede v&aelig;rdier (op til 0,75 &micro;mol/L)</h3>
<ul>
    <li>Mild (eller latent) vitamin B12-mangel, eventuelt med plasmakoncentrationer af vitamin B12 i den nedre ende af referenceintervallet for denne analyse
    &nbsp;    </li>
    <li>Nedsat nyrefunktion
    <ul>
        <li>Man b&oslash;r fortolke resultatet sammen med en aktuel v&aelig;rdi af&nbsp;<a href="~/link.aspx?_id=FBD28FDF20E04C10A80DA6C5E4F0AAED&amp;_z=z">kreatinin</a>, fordi en reduceret glomerul&aelig;rfiltration &oslash;ger MMA</li>
    </ul>
    </li>
</ul>
<p>Forh&oslash;jet niveau af MMA er associeret med en r&aelig;kke sygdomstilstande eksempelvis hjertekarsygdomme, leverfibrose og nyresygdomme. Betydningen heraf er ikke afklaret.<a href="EditorPage.aspx?da=core&amp;id=%7BA045C13E-28B5-473B-BEE1-8AADDB31AADE%7D&amp;ed=FIELD2956772735&amp;vs&amp;la=da&amp;fld=%7B850D32D3-55A1-49E4-9CDF-F0C88D91563C%7D&amp;so=%2Fsitecore%2Fsystem%2FSettings%2FHtml%20Editor%20Profiles%2FRich%20Text%20LHPH&amp;di=0&amp;hdl=H2956772876&amp;mo&amp;pe=0&amp;fbd=1" data-type="journal-reference" data-value="Tejero J, Lazure F, Gomes AP, Methylmalonic acid in aging and disease. Trends Endocrinol Metab 2023;: " data-value-piped="Tejero J, Lazure F, Gomes AP|Methylmalonic acid in aging and disease.|Trends Endocrinol Metab|2023|||38030482" data-url="reference-link" data-pubmedid="38030482" title="Tejero J, Lazure F, Gomes AP, Methylmalonic acid in aging and disease. Trends Endocrinol Metab 2023;: "><sup>4</sup></a>&nbsp;</p>
<h3>Normale v&aelig;rdier</h3>
<ul>
    <li>Ses ved isoleret&nbsp;<a href="~/link.aspx?_id=D034F70CE577455C82B08497E96CFB0A&amp;_z=z">folatmangel</a>, dvs. en tilstand, der ligesom vitamin B12-mangel, er forbundet med megaloblast&aelig;r an&aelig;mi</li>
    <li>Ved denne tilstand vil plasmakoncentrationen af&nbsp;<a href="~/link.aspx?_id=D04A9CDA27624A36946213C381814AEA&amp;_z=z">homocystein</a>&nbsp;v&aelig;re forh&oslash;jet</li>
</ul>
<h3>Lave v&aelig;rdier</h3>
<ul>
    <li>Har ingen klinisk betydning</li>
</ul>
<h2>Biokemisk baggrund<a href=" " data-type="journal-reference" data-value="Tejero J, Lazure F, Gomes AP, Methylmalonic acid in aging and disease. Trends Endocrinol Metab 2023;: " data-value-piped="Tejero J, Lazure F, Gomes AP|Methylmalonic acid in aging and disease.|Trends Endocrinol Metab|2023|||38030482" data-url="reference-link" data-pubmedid="38030482" title="Tejero J, Lazure F, Gomes AP, Methylmalonic acid in aging and disease. Trends Endocrinol Metab 2023;: "><sup>4</sup></a></h2>
<ul>
    <li>
    MMA dannes ud fra methylmalonyl-coenzym A
    </li>
    <li>
    Methylmalonyl-CoA er en intermedi&aelig;r metabolit i den intracellul&aelig;re metabolisme af visse aminosyrer
    </li>
    <li>
    Der kr&aelig;ves vitamin B12 i oms&aelig;tningen af methylmalonyl-CoA. Ved intracellul&aelig;r vitamin B12&nbsp;mangel ophobes methylmalonyl-coenzym A, som efter fraspaltning af coenzym A vil frigives som MMA til blodbanen. Forh&oslash;jet P-MMA er s&aring;ledes et funktionelt udtryk for intracellul&aelig;r cobalaminmangel&nbsp;<a href="EditorPage.aspx?da=core&amp;id=%7BA045C13E-28B5-473B-BEE1-8AADDB31AADE%7D&amp;ed=FIELD9969287891&amp;vs&amp;la=da&amp;fld=%7B850D32D3-55A1-49E4-9CDF-F0C88D91563C%7D&amp;so=%2Fsitecore%2Fsystem%2FSettings%2FHtml%20Editor%20Profiles%2FRich%20Text%20LHPH&amp;di=0&amp;hdl=H9969287950&amp;us=sitecore%5Cneho&amp;mo&amp;pe=0&amp;fbd=1" data-type="journal-reference" data-value="Hannibal L, Lysne V, Bjørke-Monsen AL, Behringer S, Grünert SC, Spiekerkoetter U, Jacobsen DW, Blom HJ, Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency. Front Mol Biosci 2016;3: 27" data-value-piped="Hannibal L, Lysne V, Bjørke-Monsen AL, Behringer S, Grünert SC, Spiekerkoetter U, Jacobsen DW, Blom HJ|Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency.|Front Mol Biosci|2016|3|27|27446930" data-url="reference-link" data-pubmedid="27446930" title="Hannibal L, Lysne V, Bjørke-Monsen AL, Behringer S, Grünert SC, Spiekerkoetter U, Jacobsen DW, Blom HJ, Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency. Front Mol Biosci 2016;3: 27"><sup>5</sup></a>
    </li>
    <li>
    MMA indvirker dels direkte p&aring; den cellul&aelig;re metabolisme og dels p&aring; flere cellul&aelig;re funktioner via regulering af signalveje&nbsp;
    </li>
    <li>
    Det stigende niveau af MMA med stigende alder er ikke afklaret, men h&aelig;nger m&aring;ske sammen med et mindre optage af vitamin B12 med alderen
    </li>
</ul>
<h2>Pr&oslash;vetagning</h2>
<ul>
    <li>Veneblod i r&oslash;r uden antikoagulans (t&oslash;rglas) eller med lithiumheparin</li>
    <li>Afpipetteret serum eller plasma er holdbart 7 d&oslash;gn ved stuetemperatur og mindst 7 d&oslash;gn ved 4<sup>o</sup>C</li>
</ul>
<h2>Referenceintervaller<a href=" " data-type="journal-reference" data-value="Abildgaard A, Knudsen CS, Hoejskov CS, Greibe E, Parkner T, Reference intervals for plasma vitamin B12 and plasma/serum methylmalonic acid in Danish children, adults and elderly. Clin Chim Acta 2022;525: 62-68" data-value-piped="Abildgaard A, Knudsen CS, Hoejskov CS, Greibe E, Parkner T|Reference intervals for plasma vitamin B12 and plasma/serum methylmalonic acid in Danish children, adults and elderly.|Clin Chim Acta|2022|525|62-68|34942168" data-url="reference-link" data-pubmedid="34942168" title="Abildgaard A, Knudsen CS, Hoejskov CS, Greibe E, Parkner T, Reference intervals for plasma vitamin B12 and plasma/serum methylmalonic acid in Danish children, adults and elderly. Clin Chim Acta 2022;525: 62-68"><sup>6</sup></a></h2>
<ul>
    <li>Der kan v&aelig;re forskelle i de angivne intervaller fra laboratorium til laboratorium, b&aring;de afh&aelig;ngigt af de anvendte m&aring;lemetoder og af referencepopulationen</li>
    <li>0<span> </span>&aring;r -<span> </span>1<span> </span>&aring;r:<span> </span>0,10-1,25<span> </span>&micro;mol/L</li>
    <li>1<span> </span>&aring;r -<span> </span>12<span> </span>&aring;r:<span> </span>0,10-0,30<span> </span>&micro;mol/L</li>
    <li>12<span> </span>&aring;r -<span> </span>18<span> </span>&aring;r:<span> </span>0,10-0,35<span> </span>&micro;mol/L</li>
    <li>18<span> </span>&aring;r -<span> </span>65<span> </span>&aring;r:<span> </span>0,10-0,40<span> </span>&micro;mol/L</li>
    <li>65<span> </span>&aring;r +<span>&nbsp;</span>0,12-0,46<span> </span>&micro;mol/L</li>
</ul>
<h2>Patientinformation</h2>
<ul>
    <li><a href="~/link.aspx?_id=B7F441108DE54A5AA6D7AA19F20D0FE4&amp;_z=z">Methylmalonat</a></li>
</ul>
<h2>NPU-koder og -navne</h2>
<ul>
    <li>NPU02780</li>
</ul>
<h3>Navne</h3>
<ul>
    <li><strong>Langt navn</strong>
    <ul>
        <li>P&mdash;Methylmalonat; stofk. = ? &micro;mol/L</li>
    </ul>
    </li>
    <li><strong>Kort navn</strong>
    <ul>
        <li>Methylmalonat;P</li>
    </ul>
    </li>
</ul>]]></HtmlField>
      <HtmlField Name="Resume"><![CDATA[<h2>Resum&eacute;</h2>
<ul>
    <li>Metylmalonat (MMA) dannes, idet der ved intracellul&aelig;r vitamin B12&nbsp;mangel er ophobning af&nbsp;methylmalonyl-coenzym A, som, efter fraspaltning af Coenzym A, frigives til blodet som MMA</li>
    <li>MMA er en sensitiv mark&oslash;r for vitamin B12 mangel</li>
    <li>MMA kan ogs&aring; v&aelig;re forh&oslash;jet af andre &aring;rsager fx nedsat nyrefunktion og er derfor ikke s&aelig;rlig specifik. V&aelig;rdier st&oslash;rre end 1,00 - 1,5 &micro;mol/L vil dog n&aelig;sten altid skyldes vitamin B12 mangel</li>
    <li>Da analysen er ret dyr, b&oslash;r den kun udf&oslash;res i tvivlstilf&aelig;lde, hvor vitamin B12 ikke er klart nedsat eller normal</li>
</ul>]]></HtmlField>
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