LOINC
Version 2.73

79287-9Carnitine biosynthesis intermediates panel - UrineActive

Term Description

The carnitine biosynthesis intermediates panel in DBS is performed for the diagnosis of carnitine biosynthesis disorders, including X-linked trimethyllysine hydroxylase (TMLHE) deficiency, a disorder of carnitine metabolism that is associated with autism.
Source: Regenstrief LOINC

Panel Hierarchy
Details for each LOINC in Panel LHC-Forms

LOINC Name R/O/C Cardinality Example UCUM Units
79287-9 Carnitine biosynthesis intermediates panel - Urine
Indent14285-1 Carnitine free (C0) [Moles/volume] in Urine umol/L
Indent17867-3 Carnitine free (C0)/Creatinine [Ratio] in Urine
Indent79331-5 Trimethyllysine/Creatinine [Molar ratio] in Urine umol/mol{creat}
Indent79311-7 Gamma butyrobetaine/Creatinine [Molar ratio] in Urine umol/mmol{creat}
Indent79313-3 Gamma butyrobetaine/Trimethyllysine [Molar ratio] in Urine {ratio}
Indent79271-3 3-Hydroxytrimethyl-L-lysine/Creatinine [Molar ratio] in Urine umol/mmol{creat}
Indent79275-4 3-Hydroxytrimethyl-L-lysine/Trimethyllysine [Molar ratio] in Urine {ratio}
Indent79342-2 Carnitine biosynthesis intermediates pattern [Interpretation] in Urine Narrative

Fully-Specified Name

Component
Carnitine biosynthesis intermediates panel
Property
-
Time
Pt
System
Urine
Scale
-
Method

Additional Names

Short Name
Carnitine biosynthesis Panel Ur
Display Name
Carnitine biosynthesis intermediates panel (U)
Consumer Name Alpha
Carnitine biosynthesis intermediates panel, Urine

Basic Attributes

Class
PANEL.CHEM
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.54
Order vs. Observation
Order
Panel Type
Panel

Language Variants Get Info

zh-CNChinese (China)
肉碱生物合成中间产物组套:-:时间点:尿液:-:
nl-NLDutch (Netherlands)
carnitine biosynthese intermediairen panel:-:moment:urine:-:
fr-FRFrench (France)
Carnitine intermédiaires de synthèse panel:-:Ponctuel:Urine:-:
it-ITItalian (Italy)
Intermediari nella biosintesi della carnitina, panel:-:Pt:Urine:-:
es-MXSpanish (Mexico)
Panel de intermedios de biosíntesis de carnitina:-:Punto temporal:Orina:-:
es-ESSpanish (Spain)
Panel de acilcarnitinas:Propiedades mixtas (sólo paneles):Punto temporal:Orina:-:

LOINC FHIR® API Example - CodeSystem and Questionnaire Requests Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=79287-9 https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/79287-9