Version 2.78

Part Description

LP200429-1   Gamma butyrobetaine
Gamma-butyrobetaine dioxygenase catalyzes the formation of L-carnitine from gamma-butyrobetaine (G-butyrobetaine). G-butyrobetaine levels are altered in various carnitine biosynthesis disorders, including X-linked trimethyllysine hydroxylase epsilon (TMLHE) deficiency. Decreased levels of gamma-butyrobetaine and 3-hydroxy-6-N-trimethyllysine along with increased levels of 6-N-trimethyllysine in plasma and urine were found in a patient with a deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene. PMID: 22566635 Source: Regenstrief LOINC

Fully-Specified Name

Component
Gamma butyrobetaine
Property
SCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
G-butyrobetaine DBS-sCnc
Display Name
Gamma butyrobetaine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info
Gamma butyrobetaine, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.61
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
79284-6 Carnitine biosynthesis intermediates panel - DBS

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gamma butirobetaina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Gamma butirobetaína:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
fr-FR French (France) Gamma butyrobétaïne:Moles/Volume:Ponctuel:Sang buvard:Numérique:
it-IT Italian (Italy) Gsmma butirro-betaina: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) gamma butyrobetaïne:mol/volume:moment:gedroogde bloedspot:kwantitatief:
tr-TR Turkish (Turkey) Gamma butirobetain:SubKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) Gamma 丁酰甜菜碱:物质的量浓度:时间点:全血.斑点:定量型:
Synonyms: Gamma-丁酰甜菜碱;γ-丁酰甜菜碱;Gamma-丁酰基甜菜碱;γ-丁酰基甜菜碱;γ-丁基甜菜碱;γ-三甲铵基丁内盐;γ-丁内铵盐;γ-三甲氨基丁内盐 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
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=79310-9