47708-3
Methylmalonate/Urea [Molar ratio] 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
LOINC Names Get Info
- Fully-Specified Name
- Methylmalonate/Urea:
SRto: Pt: Ser/Plas: Qn: - Long Common Name
- Methylmalonate/Urea [Molar ratio] in Serum or Plasma
- Short Name
- Methylmalonate/Urea SerPl-sRto
- Display Name
- Methylmalonate/Urea [Molar ratio]
- Consumer Name Alpha Get Info
- Methylmalonate/Urea, Blood
Part Model Get Info
- Component
- Methylmalonate/Urea
LP286530-3
- Analyte
- Methylmalonate/Urea
LP286530-3
- Challenge
- NULL
- Adjustment
- NULL
- Count
- NULL
- Property
- SRto
LP6868-6
- Time
- Pt
LP6960-1
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- System
- Ser/Plas
LP7576-4
- System Core
- Ser/Plas
LP7576-4
- Super System
- NULL
- Scale
- Qn
LP7753-9
- Method
- NULL
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70 (MIN)
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | Methylmalonát/močovina: |
| el-GR | Greek (Greece) | Μεθύλομαλονικό οξύ/Ουρία: Synonyms: CHEM Pt Qn SRto Μεθύλομαλονικό οξύ Ορός Ορός/Πλάσμα Ουρία Πλάσμα |
| es-ES | Spanish (Spain) | Metilmalonato/Urea: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Malonato de metilo / urea: |
| fr-CA | French (Canada) | Méthylmalonate/Urée: |
| fr-FR | French (France) | Méthylmalonate/urée: |
| fr-BE | French (Belgium) | Méthylmalonate/Urée: |
| it-IT | Italian (Italy) | Metilmalonato/Urea: Synonyms: Chimica Plasma Punto nel tempo (episodio) Rapporto di sostanza Siero Siero o Plasma |
| nl-NL | Dutch (Netherlands) | methylmalonaat/ureum: |
| pt-BR | Portuguese (Brazil) | Metilmalonato/Uréia: Synonyms: MMA; |
| ru-RU | Russian (Russian Federation) | Метилмалонат/Мочевина: Synonyms: Количественный Мольная доля; |
| tr-TR | Turkish (Turkey) | Metilmalonat/Üre: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 甲基丙二酸/尿素: Synonyms: CO(NH2)2 CO(NH2)2; |
Example Units
| Unit | Source |
|---|---|
| mmol/mmol | Example UCUM Units |
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LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://