LOINC
Version 2.73

54315-7Methylmalonate [Moles/volume] in Cerebral spinal fluidActive

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
SCnc
Time
Pt
System
CSF
Scale
Qn
Method

Additional Names

Short Name
Methylmalonate CSF-sCnc
Display Name
Methylmalonate (CSF) [Moles/Vol]
Consumer Name Alpha
Methylmalonate, Spinal fluid

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.70
Order vs. Observation
Both

Member of these Groups

LG47300-5 Methylmalonate|Pt|CSF|118.088 g/mole

Language Variants Get Info

zh-CNChinese (China)
甲基丙二酸:物质的量浓度:时间点:脑脊液:定量型:
nl-NLDutch (Netherlands)
methylmalonaat:mol/volume:moment:liquor cerebrospinalis:kwantitatief:
et-EEEstonian (Estonia)
Metüülmalonaat:SCnc:Pt:CSF:Qn:
fr-BEFrench (Belgium)
Méthylmalonate:Concentration de substance:Temps ponctuel:LCR:Quantitatif:
fr-CAFrench (Canada)
Méthylmalonate:Concentration de substance:Temps ponctuel:LCR:Quantitatif:
fr-FRFrench (France)
Méthylmalonate:Moles/Volume:Ponctuel:Liquide céphalorachidien:Numérique:
el-GRGreek (Greece)
Μεθυλμαλονικό:Συγκέντρωση ουσίας:Χρονική στιγμή:ΕΝΥ:Ποσοτική:
it-ITItalian (Italy)
Metilmalonato:SCnc:Pt:LCS:Qn:
pt-BRPortuguese (Brazil)
Metilmalonato:#N/A:Pt:LCR:Qn:
ru-RURussian (Russian Federation)
Метилмалонат:МолКонц:ТчкВрм:ЦСЖ:Колич:
es-MXSpanish (Mexico)
Malonato de metilo:Concentración de sustancias:Punto temporal:Fluído espinal cerebral:Cuantitativo:
es-ESSpanish (Spain)
Metilmalonato:Concentración de sustancia:Punto temporal:Líquido Cefalorraquideo:Qn:
tr-TRTurkish (Turkey)
Metilmalonat:SubKons:Zmlı:BOS:Kant:

Example Units

Unit Source
umol/L Example UCUM Units

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=54315-7