Version 2.78

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
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
Methylmalonate DBS-sCnc
Display Name
Methylmalonate (DBS) [Moles/Vol]
Consumer Name Alpha Get Info
Methylmalonate, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.61
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
100765-7 Homocysteine and methylmalonate and methylcitrate panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Metilmalonato:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Malonato de metilo:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
et-EE Estonian (Estonia) Metüülmalonaat:SCnc:Pt:Vereplekk:Qn:
Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Méthylmalonate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Méthylmalonate:Moles/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Méthylmalonate:Concentration de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Metilmalonato:SCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) methylmalonaat:mol/volume:moment:gedroogde bloedspot:kwantitatief:
ru-RU Russian (Russian Federation) Метилмалонат:МолКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Количественный Кровь Кровь сухая капля Молярность;Молярная объёмная концентрация Точка во времени;Момент
tr-TR Turkish (Turkey) Metilmalonat:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 甲基丙二酸:物质的量浓度:时间点:全血.斑点:定量型:
Synonyms: 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) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 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 血;血液

Example Units

Unit Source
nmol/mL 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=82385-6