Version 2.80

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/Urea
Property
SRto
Time
Pt
System
Amnio fld
Scale
Qn
Method

Additional Names

Long Common Name
Methylmalonate/Urea [Molar ratio] in Amniotic fluid
Short Name
Methylmalonate/Urea Amn-sRto
Display Name
Methylmalonate/Urea (Amn fld) [Molar ratio]
Consumer Name Alpha Get Info
Methylmalonate/Urea, Amniotic fluid

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.70 (MIN)
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Μεθύλομαλονικό οξύ/Ουρία:SRto:Pt:Αμνιακό υγρό:Qn:
Synonyms: SRto Μεθύλομαλονικό οξύ Ουρία
es-ES Spanish (Spain) Metilmalonato/Urea:Relacion de Sustancia:Punto temporal:Fluido Ammiótico:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Malonato de metilo / urea:Proporción de sustancia:Punto temporal:Líquido amniótico:Cuantitativo:
fr-CA French (Canada) Méthylmalonate/Urée:Ratio de substance:Temps ponctuel:Liquide amniotique:Quantitatif:
fr-FR French (France) Méthylmalonate/urée:Moles ratio:Ponctuel:Liquide amniotique:Numérique:
fr-BE French (Belgium) Méthylmalonate/Urée:Ratio de substance:Temps ponctuel:Liquide amniotique:Quantitatif:
it-IT Italian (Italy) Metilmalonato/Urea:Srto:Pt:Liquido amniotico:Qn:
Synonyms: Chimica Liquido amniotico Punto nel tempo (episodio) Rapporto di sostanza
nl-NL Dutch (Netherlands) methylmalonaat/ureum:molaire verhouding:moment:vruchtwater:kwantitatief:
pt-BR Portuguese (Brazil) Metilmalonato/Uréia:SCrto:Pt:LiqAmni:Qn:
Synonyms: MMA; Methylmalonic acid; sRto; Substance concentration ratio; Point in time; Random; Amn; Amniotic fluid; Amn fl; Amniotic flu; AF; Quantitative; QNT; Quant; Quan; Chemistry
ru-RU Russian (Russian Federation) Метилмалонат/Мочевина:МольОтн:ТчкВрм:Амниотич ждк:Колич:
Synonyms: Амниотическая жидкость Количественный Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR Turkish (Turkey) Metilmalonat/Üre:SOrn:Zmlı:Amniyon sv:Kant:
Synonyms: Amniyon mayii SubsOranı
zh-CN Chinese (China) 甲基丙二酸/尿素:物质的量比率:时间点:羊水:定量型:
Synonyms: CO(NH2)2 CO(NH2)2;碳酰二胺;脲 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 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 物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值 羊膜水;胎水

Example Units

Unit Source
mmol/mmol 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=47707-5