Version 2.77

Part Description

LP15452-3   Biotinidase
Biotinidase is a human enzyme coded for by the BTD gene. It facilitates the use and recycling of the B vitamin biotin, sometimes called vitamin H. It removes biotin from food because biotin is needed in its free form. Biotinidase also recycles biotin from certain enzymes, known as carboxylases. These enzymes are important in the processing of fats, carbohydrates and proteins. Biotin is attached to the carboxylases through an amino acid called lysine, forming a complex called biocytin. Biotinidase removes biotin from biocytin and makes it available to be reused by other enzymes.

Mutations in the BTD gene cause biotinidase deficiency. Approximately 100 mutations in the BTD gene that lead to biotinidase deficiency have been discovered. These mutations either prevent the enzyme from being made or cause the enzyme that is produced to be nonfunctional. 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, Biotinidase

Fully-Specified Name

Component
Biotinidase
Property
PrThr
Time
Pt
System
Bld.dot
Scale
Ord
Method

Additional Names

Short Name
Biotinidase DBS Ql
Display Name
Biotinidase Ql (DBS)
Consumer Name Alpha Get Info
Biotinidase, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.14
Last Updated
Version 2.73
Change Reason
The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both
Common Test Rank Get Info
1407

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
de-DE German (Germany) Biotinidase:Nachweis oder Schwellenwert:Zeitpunkt:Blut.Tropfen:Ordinal:
es-AR Spanish (Argentina) biotinidasa:concentración arbitraria:punto en el tiempo:sangre.gota:ordinal:
es-ES Spanish (Spain) Biotinidasa:PrThr:Punto temporal:gota de sangre (papel de filtro):Ord:
es-MX Spanish (Mexico) Biotinidasa:Presencia o umbral:Punto temporal:DBS:Ordinal:
et-EE Estonian (Estonia) Biotinidaas:PrThr:Pt:Vereplekk:Ord:
Synonyms: Järgarvuline Juhuslik Veri
fr-CA French (Canada) Biotinidase:Présence-Seuil:Temps ponctuel:Sang sur papier filtre:Ordinal:
fr-FR French (France) Biotinidase:Présence/Seuil:Ponctuel:Sang buvard:Qualitatif:
fr-BE French (Belgium) Biotinidase:PrThr:Temps ponctuel:Sang sur papier filtre:Ordinal:
it-IT Italian (Italy) Biotinidasi:PrThr:Pt:Sangue.su carta da filtro:Ord:
Synonyms: Chimica Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco
ko-KR Korean (Korea, Republic Of) 바이오티니다아제:임의농도:검사시점:필터지혈액:순위척도:
nl-NL Dutch (Netherlands) biotinidase:aanwezigheid:moment:gedroogde bloedspot:ordinaal:
pt-BR Portuguese (Brazil) Biotinidase:ACnc:Pt:SgPapel:Ord:
Synonyms: Arbitrary concentration; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; Chemistry
ru-RU Russian (Russian Federation) Биотинидаза:PrThr:ТчкВрм:Кр.Сух.капл:Пор:
Synonyms: Кровь Кровь сухая капля Порядковый Точка во времени;Момент
tr-TR Turkish (Turkey) Biyotinidaz:MevcEşik:Zmlı:Kan.nokta:Srl:
Synonyms: Mevcut
zh-CN Chinese (China) 生物素化物酶:存在情况或阈值:时间点:全血.斑点:序数型:
Synonyms: 依次型;分类顺序型;定性的;序数型(或称等级型);性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况(存在、存在与否、是否存在)或阈值(界值、界限、阀值、临界值) 时刻;随机;随意;瞬间 血;血液

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=38478-4