42520-7
Methylmalonate [Moles/volume] in 24 hour Urine
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:
SCnc: 24H: Urine: Qn: - Long Common Name
- Methylmalonate [Moles/volume] in 24 hour Urine
- Short Name
- Methylmalonate 24h Ur-sCnc
- Display Name
- Methylmalonate (24H U) [Moles/Vol]
- Consumer Name Alpha Get Info
- Methylmalonate, Urine
Part Model Get Info
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.16
- Last Updated
- Version 2.70 (MIN)
- Order vs. Observation
- Both
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG35829-7 | Methylmalonate| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | Methylmalonát: |
| de-AT | German (Austria) | Synonyms: Methylmalonsäure /24hU |
| el-GR | Greek (Greece) | Μεθύλομαλονικό οξύ: Synonyms: 24H CHEM Qn SCnc Μεθύλομαλονικό οξύ Ούρα |
| es-ES | Spanish (Spain) | Metilmalonato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Malonato de metilo: |
| et-EE | Estonian (Estonia) | Metüülmalonaat: Synonyms: Aine kontsentratsioon Kvantitatiivne Uriin |
| fr-CA | French (Canada) | Méthylmalonate: |
| fr-FR | French (France) | Méthylmalonate: |
| fr-BE | French (Belgium) | Méthylmalonate: |
| it-IT | Italian (Italy) | Metilmalonato: Synonyms: 24 Ore Chimica Concentrazione di Sostanza |
| ko-KR | Korean (Korea, Republic Of) | 메틸말로네이트: |
| nl-NL | Dutch (Netherlands) | methylmalonaat: Synonyms: 24U |
| pt-BR | Portuguese (Brazil) | Metilmalonato: Synonyms: MMA; |
| ru-RU | Russian (Russian Federation) | Метилмалонат: Synonyms: Количественный Молярность; |
| tr-TR | Turkish (Turkey) | Metilmalonat: |
| zh-CN | Chinese (China) | 甲基丙二酸: Synonyms: 1天; |
Example Units
| Unit | Source |
|---|---|
| umol/L | 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://