Version 2.78

Term Description

Biotinidase is a marker for biotinidase deficiency, which is one of the core conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening. The submitter's lab uses Astoria-Pacific's SPOTCHECK analyzer to measure biotinidase, which is reported in ERUs (enzyme response units). ERU units are defined as follows: "One ERU is equal to one micromole of PABA (product) produced from Biotin-PAB (substrate) per 100 mL per 90 minutes in the extract from a dried blood spot."
Source: Regenstrief LOINC

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
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Long Common Name
Biotinidase [Enzymatic activity/volume] in DBS
Short Name
Biotinidase DBS-cCnc
Display Name
Biotinidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Biotinidase, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.48
Last Updated
Version 2.73
Order vs. Observation
Both
Common Test Rank Get Info
16427

Member of these Panels

LOINC Long Common Name
57087-9 Biotinidase newborn screening panel
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Biotinidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Biotinidasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE Estonian (Estonia) Biotinidaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Biotinidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Biotinidase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Biotinidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Biotinidasi:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) biotinidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR Portuguese (Brazil) Biotinidase::Pt:SgPapel:Qn:
ru-RU Russian (Russian Federation) Биотинидаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Biyotinidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 生物素化物酶:催化浓度:时间点:全血.斑点:定量型:
Synonyms: 催化浓度(单位体积);单位体积内酶的单位数 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
nmol/mL/min 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=75217-0