Version 2.77

Term Description

Citrulline/Phenylalanine is a primary marker for Citrullinemia type I, Tyrosinemia type II, Citrullinemia type II and Pyruvate carboxylase deficiency. Secondary marker for Carbamoyltransferase deficiency, Ornithine transcarbamylase deficiency, and Pyruvate carboxylase deficiency.
Source: Regenstrief LOINC

Part Descriptions

LP15504-1   Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Citrulline (Wikipedia)

LP70160-4   Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Phenylalanine (Wikipedia)

Fully-Specified Name

Component
Citrulline/Phenylalanine
Property
SRto
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
Citrulline/Phe DBS-sRto
Display Name
Citrulline/Phenylalanine (DBS) [Molar ratio]
Consumer Name Alpha Get Info
Citrulline/Phenylalanine, 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
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
104188-8 Mucopolysaccharidosis type II newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Citrulina/Fenilalanina:Relacion de Sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Citrulina / Fenilalanina:Proporción de sustancia:Punto temporal:DBS:Cuantitativo:
fr-CA French (Canada) Citrulline/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Citrulline/phénylalanine:Moles ratio:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Citrulline/Phénylalanine:Ratio de substance:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Citrullina/Fenilalanina:Srto:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco
nl-NL Dutch (Netherlands) citrulline/fenylalanine:molaire verhouding:moment:gedroogde bloedspot:kwantitatief:
Synonyms: phenylalanine
pt-BR Portuguese (Brazil) Citrulina/Fenilalanina:SCrto:Pt:SgPapel:Qn:
Synonyms: Cit; Citr; Phe; PPA; sRto; Substance concentration ratio; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; Chemistry; PKU
ru-RU Russian (Russian Federation) Цитруллин/Фенилаланин: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) Sitrüllin/Fenilalanin:SOrn:Zmlı:Kan.nokta:Kant:
Synonyms: SubsOranı
zh-CN Chinese (China) 瓜氨酸/苯丙氨酸:物质的量比率:时间点:全血.斑点:定量型:
Synonyms: Citr Phe Phe;PPA;苯基丙氨酸 PKU 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 物质的量比值;物质的量比;摩尔比;摩尔比率;摩尔比值 苯丙酮尿 苯丙酮尿症 苯丙酮酸尿症 血;血液

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=53157-4