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
24H
System
Urine
Scale
Qn
Method

Additional Names

Short Name
Methylmalonate 24h Ur-sCnc
Display Name
Methylmalonate (24H U) [Moles/Vol]
Consumer Name Alpha Get Info
Methylmalonate, Urine

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.16
Last Updated
Version 2.70
Order vs. Observation
Both

Member of these Groups Get Info

LOINC Group Group Name
LG35829-7 Methylmalonate|SCnc|Urine

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: Methylmalonsäure /24hU
el-GR Greek (Greece) Μεθυλμαλονικό:Συγκέντρωση ουσίας:24 ώρες:Ούρα:Ποσοτική:
es-ES Spanish (Spain) Metilmalonato:Concentración de sustancia:24 horas:Orina:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Malonato de metilo:Concentración de sustancias:24H:Orina:Cuantitativo:
et-EE Estonian (Estonia) Metüülmalonaat:SCnc:24 tunni:U:Qn:
Synonyms: Aine kontsentratsioon Kvantitatiivne Uriin
fr-CA French (Canada) Méthylmalonate:Concentration de substance:24 h:Urine:Quantitatif:
fr-FR French (France) Méthylmalonate:Moles/Volume:24H:Urine:Numérique:
fr-BE French (Belgium) Méthylmalonate:Concentration de substance:24 h:Urine:Quantitatif:
it-IT Italian (Italy) Metilmalonato:SCnc:24h:Urine:Qn:
Synonyms: 24 Ore Chimica Concentrazione di Sostanza
ko-KR Korean (Korea, Republic Of) 메틸말로네이트:물질농도:24시간:뇨:정량:
nl-NL Dutch (Netherlands) methylmalonaat:mol/volume:24 uur:urine:kwantitatief:
Synonyms: 24U
pt-BR Portuguese (Brazil) Metilmalonato:SCnc:24H:Urina:Qn:
Synonyms: MMA; Methylmalonic acid; Substance concentration; Level; 1 day; 24 hours; 24HR; Ur; UR; Urn; UA; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU Russian (Russian Federation) Метилмалонат:МолКонц:24 часа:Моча:Колич:
Synonyms: Количественный Молярность;Молярная объёмная концентрация
tr-TR Turkish (Turkey) Metilmalonat:SubKons:24Sa:İdrar:Kant:
zh-CN Chinese (China) 甲基丙二酸:物质的量浓度:24小时:尿液:定量型:
Synonyms: 1天;1日;24.0小时;一天;一日;二十四个小时;二十四小时 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 尿;小便;下泉

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=42520-7