Version 2.78

Term Description

3-Hydroxyisovalerylcarnitine/Carnitine.free is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria. Secondary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, and 3-Hydroxy-3-methylglutaric aciduria.
Source: Regenstrief LOINC

Part Descriptions

LP19309-1   3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria. Source: Regenstrief LOINC

LP32015-7   Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I. Source: Regenstrief LOINC

Fully-Specified Name

Component
3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0)
Property
SRto
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
3OH-Isovalerylcarn/C0 DBS-sRto
Display Name
3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) (DBS) [Molar ratio]
Consumer Name Alpha Get Info
3-Hydroxyisovalerylcarnitine (C5-OH)/Free Carnitine (C0), Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
58092-8 Acylcarnitine newborn screen panel
53262-2 Carnitine newborn screen panel
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) 3-Hidroxiisovalerilcarnitina (C5-OH)/Carnitina libre:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) 3-hidroxiisovalerilcarnitina (C5-OH) / carnitina libre (C0):Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-CA French (Canada) 3-hydroxyisovalérylcarnitine (C5-OH):/Carnitine.libre (C0):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) 3-hydroxyisovalérylcarnitine (C5-OH)/carnitine libre (C0):Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) 3-hydroxyisovalérylcarnitine (C5-OH)/Carnitine.libre (C0):Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) 3-Idrossiisovalerilcarnitina (C5-OH)/Carnitina.libera (C0):Srto:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL Dutch (Netherlands) 3-hydroxyisovalerylcarnitine (C5-OH)/carnitine.vrij (C0):molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
pt-BR Portuguese (Brazil) 3-Hidroxisovalerilcarnitina (C5-OH)/Carnitina.livre (C0):SCrto:Pt:SgPapel:Qn:
Synonyms: ; 3OH-Isovalerylcarn; 3-hydroxy-isovalerylcarnitine; C5OH; 3OH-Isovalerylcarn; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; FR; Non-protein bound; III; Chemistry
ru-RU Russian (Russian Federation) 3-Гидроксиизовалерилкарнитин (C5-OH)/Карнитин.свободный(С0):МольОтн:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Количественный Кровь Кровь сухая капля Мольная доля;Молярная доля;Отношение концентраций Точка во времени;Момент
tr-TR Turkish (Turkey) 3-Hidroksiizovalerilkarnitin (C5-OH)/Karnitin.serb (C0):SOrn:Zmlı:Kan.nokta:Kant:
Synonyms: SubsOranı
zh-CN Chinese (China) 3-羟基异戊酰肉碱 (C5-OH)/肉碱.游离型 (C0):物质的量比率:时间点:全血.斑点:定量型:
Synonyms: 3-羟基异戊酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-OH);3OH-异戊酰肉碱;3-羟基异戊酰基肉碱;3-羟基-异戊酰基肉碱;3-羟基-异戊酰肉碱;3-羟基-异戊酰肉碱, C5-OH;3-羟基异戊酰肉碱, C5-OH;C5OH;C5-OH Ⅲ III 三 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 叁 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 游离 物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）.游离型 (C0);肉毒碱.游离型 (C0) 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）.游离型 (C0);肉毒碱.游离型 (C0);三甲基羟基丁酰甜菜碱.游离型 (C0);游离三甲基羟基丁酰甜菜碱 (C0);游离型三甲基羟基丁酰甜菜碱 (C0);游离型肉毒碱 (C0);游离型肉碱 (C0);游离肉毒碱 (C0);游离肉碱 (C0);肉碱.游离型 (C0) 肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁）;三甲基羟基丁酰甜菜碱;卡尼丁;总肉毒碱;总肉碱;肉毒碱;肉毒碱.总;肉毒碱.总计;肉碱.总;肉碱.总计 血;血液 非蛋白结合型 非蛋白质结合型

Example Units

Unit Source
{Ratio} 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=53171-5