38478-4
Biotinidase [Presence] in DBS
Active
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.
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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 |
|---|---|
| 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 |
|---|---|---|
| de-DE | German (Germany) | Biotinidase: |
| es-AR | Spanish (Argentina) | biotinidasa: |
| es-ES | Spanish (Spain) | Biotinidasa: |
| es-MX | Spanish (Mexico) | Biotinidasa: |
| et-EE | Estonian (Estonia) | Biotinidaas: Synonyms: Järgarvuline Juhuslik Veri |
| fr-CA | French (Canada) | Biotinidase: |
| fr-FR | French (France) | Biotinidase: |
| fr-BE | French (Belgium) | Biotinidase: |
| it-IT | Italian (Italy) | Biotinidasi: Synonyms: Chimica Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 바이오티니다아제: |
| nl-NL | Dutch (Netherlands) | biotinidase: |
| pt-BR | Portuguese (Brazil) | Biotinidase: Synonyms: Arbitrary concentration; |
| ru-RU | Russian (Russian Federation) | Биотинидаза: Synonyms: Кровь Кровь сухая капля Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | Biyotinidaz: Synonyms: Mevcut |
| zh-CN | Chinese (China) | 生物素化物酶: Synonyms: 依次型; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=38478-4
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