82385-6

Methylmalonate [Moles/volume] in DBS

Active

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

LOINC Names Get Info

Fully-Specified Name: Methylmalonate:SCnc:Pt:Bld.dot:Qn:
Long Common Name: Methylmalonate [Moles/volume] in DBS
Short Name: Methylmalonate DBS-sCnc
Display Name: Methylmalonate (DBS) [Moles/Vol]
Consumer Name Alpha Get Info: Methylmalonate, Dried blood spot

Part Model Get Info

Component
Methylmalonate
LP15735-1
- Analyte
  Methylmalonate
  LP15735-1
  - Component Numerator
    Methylmalonate
    LP15735-1
    - Component Numerator Core
      Methylmalonate
      LP15735-1
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
SCnc
LP6860-3
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld.dot
LP21304-8
- System Core
  Bld.dot
  LP21304-8
- Super System
  NULL
Scale
Qn
LP7753-9
Method
NULL

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.58
Last Updated: Version 2.61 (MIN)
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
cs-CZ	Czech (Czechia)	Methylmalonát:Látková koncentrace:Časový bod:Suchá krevní kapka (DBS):Kvantitativní:
el-GR	Greek (Greece)	Μεθύλομαλονικό οξύ:SCnc:Pt:Bld.dot:Qn: Synonyms: Bld.dot CHEM Pt Qn SCnc Αίμα Μεθύλομαλονικό οξύ
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

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LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.