Acid metilmalonic

Acid metilmalonic
Identificare
SMILES
Număr CAS516-05-2
ChEMBLCHEMBL1232416
PubChem CID487
Formulă chimicăC₄H₆O₄[1]  Modificați la Wikidata
Masă molară118,027 u.a.m.[2]  Modificați la Wikidata
Sunt folosite unitățile SI și condițiile de temperatură și presiune normale dacă nu s-a specificat altfel.
Modifică date / text Consultați documentația formatului

Acidul metilmalonic este un acid dicarboxilic, fiind un derivat C-metilat al acidului malonic. Anionul său se numește metilmalonat. Formează cu coenzima A metilmalonil-CoA, compus care este convertit la succinil-CoA, ceea ce necesită vitamin B12 pe post de cofactor. Nivelele crescute de acid metilmalonic pot indica un deficit de vitamina B12, însă acest parametru nu este specific (deficitul de această vitamină poate să nu existe în cazul nivelelor crescute de acid metilmalonic).[3]

Patologie

Nivelurile crescute de acid metilmalonic însoțite de niveluri crescute de acid malonic pot indica o boală metabolică adesea nedetectată[4], mai exact, aciduria malonică și metilmalonică combinată (CMAMMA). Prin calcularea raportului dintre acidul malonic și acidul metilmalonic din plasma sanguină, CMAMMA se poate distinge de aciduria metilmalonică clasică.[5]

Note

  1. ^ a b „Acid metilmalonic”, Methylmalonic acid (în engleză), PubChem, accesat în  
  2. ^ „Acid metilmalonic”, Methylmalonic acid (în engleză), PubChem, accesat în  
  3. ^ „Sensitivity and Specificity”. www.med.emory.edu. 
  4. ^ NIH Intramural Sequencing Center Group; Sloan, Jennifer L; Johnston, Jennifer J; Manoli, Irini; Chandler, Randy J; Krause, Caitlin; Carrillo-Carrasco, Nuria; Chandrasekaran, Suma D; Sysol, Justin R (), „Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria”, Nature Genetics (în engleză), 43 (9), pp. 883–886, doi:10.1038/ng.908, ISSN 1061-4036, PMC 3163731 Accesibil gratuit, PMID 21841779 
  5. ^ de Sain-van der Velden, Monique G. M.; van der Ham, Maria; Jans, Judith J.; Visser, Gepke; Prinsen, Hubertus C. M. T.; Verhoeven-Duif, Nanda M.; van Gassen, Koen L. I.; van Hasselt, Peter M. (), Morava, Eva; Baumgartner, Matthias; Patterson, Marc; Rahman, Shamima, ed., „A New Approach for Fast Metabolic Diagnostics in CMAMMA”, JIMD Reports, Volume 30, Springer Berlin Heidelberg, 30, pp. 15–22, doi:10.1007/8904_2016_531, ISBN 978-3-662-53680-3, PMC 5110436 Accesibil gratuit, PMID 26915364 

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