Version 2.77

Description

Methylmalonate (methylmalonic acid) is measured as a second-tier assay when abnormal propionyl carnitine or methionine concentrations are identified in a primary newborn screening. 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. The biochemical phenotype for MMA includes elevated methylmalonic acid, propionyl carnitine and methylcitric acid, while patients with PA have elevated propionyl carnitine and methylcitric acid with normal methylmalonic acid concentrations as the enzymatic defect is upstream of methylmalonic-CoA mutase. Source: Regenstrief LOINC

Basic Part Properties

Part Display Name
Methylmalonate
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
Methylmalonate

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP15735-1
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https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP15735-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 甲基丙二酸
Synonyms: MMA;丙二酸二甲酯;甲基丙二酸盐;甲基丙二酸盐/酯;甲基丙二酸酯
fr-CA French (Canada) Méthylmalonate
et-EE Estonian (Estonia) Metüülmalonaat
es-ES Spanish (Spain) Metilmalonato
it-IT Italian (Italy) Metilmalonato
el-GR Greek (Greece) Μεθυλμαλονικό
tr-TR Turkish (Turkey) Metilmalonat
ru-RU Russian (Russian Federation) Метилмалонат
nl-NL Dutch (Netherlands) methylmalonaat
fr-BE French (Belgium) Méthylmalonate