2629-4
Methylmalonate [Mass/volume] in Serum or Plasma
Active
Part Description
LP15735-1 Methylmalonate
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
Fully-Specified Name
- Component
- Methylmalonate
- Property
- MCnc
- Time
- Pt
- System
- Ser/Plas
- Scale
- Qn
- Method
Additional Names
- Short Name
- Methylmalonate SerPl-mCnc
- Display Name
- Methylmalonate [Mass/Vol]
- Consumer Name Alpha
- Methylmalonate, Blood
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 1.0
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank
- 5054
Member of these Groups
LOINC Group | Group Name |
---|---|
LG47301-3 | Methylmalonate| |
Language Variants
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | 甲基丙二酸: Synonyms: |
es-AR | Spanish (Argentina) | metilmalonato: |
fr-CA | French (Canada) | Méthylmalonate: |
et-EE | Estonian (Estonia) | Metüülmalonaat: Synonyms: |
pt-BR | Portuguese (Brazil) | Metilmalonato: Synonyms: |
de-DE | German (Germany) | Methylmalonat: Synonyms: |
es-ES | Spanish (Spain) | Metilmalonato: |
ko-KR | Korean (Korea, Republic Of) | 메틸말로네이트: |
it-IT | Italian (Italy) | Metilmalonato: Synonyms: |
el-GR | Greek (Greece) | Μεθυλμαλονικό: |
fr-FR | French (France) | Méthylmalonate: |
tr-TR | Turkish (Turkey) | Metilmalonat: |
ru-RU | Russian (Russian Federation) | Метилмалонат: Synonyms: |
nl-NL | Dutch (Netherlands) | methylmalonaat: |
fr-BE | French (Belgium) | Méthylmalonate: |
es-MX | Spanish (Mexico) | Malonato de metilo: |
Example Units
Unit | Source |
---|---|
ug/dL | Example UCUM Units |
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