Version 2.78

Description

Glutaric aciduria type I (GA I) is an autosomal-recessive deficiency of glutaryl-CoA-dehydrogenase and leads to encephalopathic crises resulting in neurological damage. A screening parameter is glutarylcarnitine (C5DC) with carnitine ratios. C5DC was shown to be significantly associated with renal manifestations. Creatinine correlates significantly with C5DC and all C5DC/acylcarnitine ratios. PMID: 20033292 Source: Regenstrief LOINC

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Display Name
Glutarylcarnitine (C5-DC)
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
Glutarylcarn

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19314-1
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19314-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 戊二酰肉碱 (C5-DC)
Synonyms: 戊二酰肉碱（肉毒碱、三甲基羟基丁酰甜菜碱、卡尼丁） (C5-DC);C5DC;C5-DC;戊二酰基肉碱;戊二酰肉碱, C5DC;戊二酸单酰基肉碱;戊二酸单酰肉碱;戊二酸单酰肉碱, C5DC
fr-CA French (Canada) Glutarylcarnitine (C5-DC)
et-EE Estonian (Estonia) Glutarüülkarnitiin (C5-DC)
es-ES Spanish (Spain) Glutarilcarnitina (C5-DC)
it-IT Italian (Italy) Glutarilcarnitina (C5-DC)
tr-TR Turkish (Turkey) Glutarilkarnitin (C5-DC)
ru-RU Russian (Russian Federation) Глутарилкарнитин (C5-DC)
nl-NL Dutch (Netherlands) glutarylcarnitine (C5-DC)
fr-BE French (Belgium) Glutarylcarnitine (C5-DC)