54315-7

Methylmalonate [Moles/volume] in Cerebrospinal Fluid

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:CSF:Qn:
Long Common Name: Methylmalonate [Moles/volume] in Cerebrospinal Fluid
Short Name: Methylmalonate CSF-sCnc
Display Name: Methylmalonate (CSF) [Moles/Vol]
Consumer Name Alpha Get Info: Methylmalonate, Spinal fluid

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
CSF
LP7156-5
- System Core
  CSF
  LP7156-5
- Super System
  NULL
Scale
Qn
LP7753-9
Method
NULL

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.27
Last Updated: Version 2.83 (MIN)
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
cs-CZ	Czech (Czechia)	Methylmalonát:Látková koncentrace:Časový bod:Mozkomíšní mok:Kvantitativní:
el-GR	Greek (Greece)	Μεθύλομαλονικό οξύ:SCnc:Pt:ΕΝΥ:Qn: Synonyms: CHEM Pt Qn SCnc ΕΝΥ Μεθύλομαλονικό οξύ
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

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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.