29877-8
Methylmalonate [Presence] in 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
Fully-Specified Name
- Component
- Methylmalonate
- Property
- PrThr
- Time
- Pt
- System
- Urine
- Scale
- Ord
- Method
Additional Names
- Short Name
- Methylmalonate Ur Ql
- Display Name
- Methylmalonate Ql (U)
- Consumer Name Alpha Get Info
- Methylmalonate, Urine
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.04
- Last Updated
- Version 2.73
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 11716
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-DE | German (Germany) | Methylmalonat: Synonyms: Methylmalonsäure |
de-AT | German (Austria) | Synonyms: Methylmalonat /U |
el-GR | Greek (Greece) | Μεθυλμαλονικό: |
es-ES | Spanish (Spain) | Metilmalonato: |
es-MX | Spanish (Mexico) | Malonato de metilo: |
es-AR | Spanish (Argentina) | metilmalonato: |
et-EE | Estonian (Estonia) | Metüülmalonaat: Synonyms: Järgarvuline Juhuslik Uriin |
fr-CA | French (Canada) | Méthylmalonate: |
fr-FR | French (France) | Méthylmalonate: |
fr-BE | French (Belgium) | Méthylmalonate: |
it-IT | Italian (Italy) | Metilmalonato: Synonyms: Chimica Presenza o Soglia Punto nel tempo (episodio) |
ko-KR | Korean (Korea, Republic Of) | 메틸말로네이트: |
nl-NL | Dutch (Netherlands) | methylmalonaat: |
pt-BR | Portuguese (Brazil) | Metilmalonato: Synonyms: MMA; |
ru-RU | Russian (Russian Federation) | Метилмалонат: Synonyms: Порядковый Точка во времени; |
tr-TR | Turkish (Turkey) | Metilmalonat: Synonyms: Mevcut |
zh-CN | Chinese (China) | 甲基丙二酸: Synonyms: MMA; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=29877-8
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright