2629-4Methylmalonate [Mass/volume] in Serum or PlasmaActive
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 US Lab Results Rank
- 5054
Member of these Groups
LG47301-3 | Methylmalonate| |
Language Variants Get Info
- zh-CNChinese (China)
- 甲基丙二酸:
质量浓度: 时间点: 血清/血浆: 定量型: - nl-NLDutch (Netherlands)
- methylmalonaat:
massa/volume: moment: serum of plasma: kwantitatief: - et-EEEstonian (Estonia)
- Metüülmalonaat:
MCnc: Pt: S/P: Qn: - fr-BEFrench (Belgium)
- Méthylmalonate:
Concentration de masse: Temps ponctuel: Sérum/Plasma: Quantitatif: - fr-CAFrench (Canada)
- Méthylmalonate:
Concentration de masse: Temps ponctuel: Sérum/Plasma: Quantitatif: - fr-FRFrench (France)
- Méthylmalonate:
Masse/Volume: Ponctuel: Sérum/Plasma: Numérique: - de-DEGerman (Germany)
- Methylmalonat:
Massenkonzentration: Zeitpunkt: Serum oder Plasma: Quantitativ: - el-GRGreek (Greece)
- Μεθυλμαλονικό:
Συγκέντρωση μάζας: Χρονική στιγμή: Ορός/Πλάσμα: Ποσοτική: - it-ITItalian (Italy)
- Metilmalonato:
MCnc: Pt: Siero/Plasma: Qn: - ko-KRKorean (Korea, Republic of)
- 메틸말로네이트:
질량농도: 검사시점: 혈청/혈장: 정량: - pt-BRPortuguese (Brazil)
- Metilmalonato:
MCnc: Pt: Sor/Plas: Qn: - ru-RURussian (Russian Federation)
- Метилмалонат:
МассКонц: ТчкВрм: Сыв/Плаз: Колич: - es-ARSpanish (Argentina)
- metilmalonato:
concentración de masa: punto en el tiempo: suero/plasma: cuantitativo: - es-MXSpanish (Mexico)
- Malonato de metilo:
Concentración de masa: Punto temporal: Suero o Plasma: Cuantitativo: - es-ESSpanish (Spain)
- Metilmalonato:
Concentración de masa: Punto temporal: Suero o Plasma: Qn: - tr-TRTurkish (Turkey)
- Metilmalonat:
KütlKons: Zmlı: Ser/Plaz: Kant:
Example Units
Unit | Source |
---|---|
ug/dL | Example UCUM Units |
LOINC FHIR® API Example - CodeSystem Request Get Info
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=2629-4
LOINC Copyright
Copyright © 2022 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright