Version 2.77

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 Get Info
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 Get Info

LOINC Group Group Name
LG47300-5 Methylmalonate|Pt|CSF|118.088 g/mole

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Μεθυλμαλονικό:Συγκέντρωση ουσίας:Χρονική στιγμή:ΕΝΥ:Ποσοτική:
es-ES Spanish (Spain) Metilmalonato:Concentración de sustancia:Punto temporal:Líquido Cefalorraquideo:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Malonato de metilo:Concentración de sustancias:Punto temporal:Fluído espinal cerebral:Cuantitativo:
et-EE Estonian (Estonia) Metüülmalonaat:SCnc:Pt:CSF:Qn:
Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Liikvor
fr-CA French (Canada) Méthylmalonate:Concentration de substance:Temps ponctuel:LCR:Quantitatif:
fr-FR French (France) Méthylmalonate:Moles/Volume:Ponctuel:Liquide céphalorachidien:Numérique:
fr-BE French (Belgium) Méthylmalonate:Concentration de substance:Temps ponctuel:LCR:Quantitatif:
it-IT Italian (Italy) Metilmalonato:SCnc:Pt:LCS:Qn:
Synonyms: Chimica Concentrazione di Sostanza Liquido cerebrospinale Punto nel tempo (episodio)
nl-NL Dutch (Netherlands) methylmalonaat:mol/volume:moment:liquor cerebrospinalis:kwantitatief:
pt-BR Portuguese (Brazil) Metilmalonato:#N/A:Pt:LCR:Qn:
Synonyms: MMA; Methylmalonic acid; Substance concentration; Level; Point in time; Random; Cerebral spinal fluid; Spinal Fluid; Cerebrospinal Fl; Spinal Flu; Spinal Fld; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU Russian (Russian Federation) Метилмалонат:МолКонц:ТчкВрм:ЦСЖ:Колич:
Synonyms: Количественный Молярность;Молярная объёмная концентрация Точка во времени;Момент Цереброспинальная жидкость
tr-TR Turkish (Turkey) Metilmalonat:SubKons:Zmlı:BOS:Kant:
zh-CN Chinese (China) 甲基丙二酸:物质的量浓度:时间点:脑脊液:定量型:
Synonyms: CSF CSF;脊髓液;Cerebral spinal fluid;脑脊髓液 MMA;丙二酸二甲酯;甲基丙二酸盐;甲基丙二酸盐/酯;甲基丙二酸酯 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 脊液 脊髓液 脑脊液（Cerebral spinal fluid，CSF） 脑脊髓液

Example Units

Unit Source
umol/L Example UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

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