Version 2.77


Elevated methylcitric acid levels are indicative of an underlying metabolic disorder such as methylmalonic acidemia (MMA) and propionic acidemia (PA). Source: Regenstrief LOINC

2-Methylcitrate (methylcitric acid (MCA)) is measured as a second-tier assay when abnormal propionyl carnitine or methionine concentrations are identified in a primary newborn screen. Methylmalonic acidemia (MMA) and propionic acidemia (PA) are defects of propionate metabolism caused by deficiencies in methylmalonyl-CoA mutase and propionyl-CoA carboxylase, respectively. The clinical phenotype of both conditions includes vomiting, hypotonia, lethargy, apnea, hypothermia, and coma in the newborn period, and both MMA and PA are associated with elevated MCA and propionyl carnitine concentrations. MMA and PA can be distinguished based on methylmalonic acid concentration, which is elevated in MMA and normal in PA. Source: Regenstrief LOINC

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Tag Language Translation
zh-CN Chinese (China) 2-甲基柠檬酸
Synonyms: 2Me-柠檬酸;Me-柠檬酸;甲基柠檬酸
fr-CA French (Canada) 2-méthylcitrate
et-EE Estonian (Estonia) 2-metüültsitraat
es-ES Spanish (Spain) 2-Metilcitrato
it-IT Italian (Italy) 2-Metilcitrato
tr-TR Turkish (Turkey) 2-Metilsitrat
ru-RU Russian (Russian Federation) 2-Метилцитрат
nl-NL Dutch (Netherlands) 2-methylcitraat
fr-BE French (Belgium) 2-méthylcitrate