57087-9
Biotinidase newborn screening panel
Active
46761-3 Biotinidase deficiency newborn screen interpretation
Part Descriptions
LP56771-6 Biotinidase deficiency
The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Biotinidase deficiency
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- BIOT DBS-Imp
- Display Name
- Biotinidase deficiency (DBS) [Interp]
- Consumer Name Alpha Get Info
- Biotinidase deficiency, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 5014
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
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-MX | Spanish (Mexico) | Deficiencia de biotinidasa: |
| es-ES | Spanish (Spain) | Deficiencia de Biotinidasa: |
| fr-BE | French (Belgium) | Déficit en biotinidase: |
| fr-FR | French (France) | Biotinidase carence: |
| fr-CA | French (Canada) | Déficit en biotinidase: |
| it-IT | Italian (Italy) | Biotinidasi, deficit: Synonyms: Chimica Deficit di biotinidasi Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | biotinidasedeficiëntie: Synonyms: biotinidase deficientie |
| pt-BR | Portuguese (Brazil) | Deficiência de Biotinidase: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Биотинидаза недостаточность: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Недостаточность биотинидазы Номинальный; |
| tr-TR | Turkish (Turkey) | Biyotinidaz yetmezliği: |
| zh-CN | Chinese (China) | 生物素化物酶缺陷: Synonyms: BIOT 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57699-1 Biotinidase deficiency newborn screening comment-discussion
Part Descriptions
LP56771-6 Biotinidase deficiency
The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Biotinidase deficiency newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- BIOT NBS comment
- Display Name
- Biotinidase deficiency newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Biotinidase deficiency newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 19546
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-MX | Spanish (Mexico) | Comentario-discusión sobre el cribado neonatal por deficiencia de biotinidasa: |
| es-ES | Spanish (Spain) | Deficiencia de Biotinidasa screnning de recién nacidos comentario-discusión: |
| fr-BE | French (Belgium) | Déficit en biotinidase Commentaires.screening néonatal.discussion: |
| fr-FR | French (France) | Biotinidase carence dépistage néonatal (commentaire/discussion): |
| it-IT | Italian (Italy) | Biotinidasi, deficit , screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per deficit di biotinidasi Deficit di biotinidasi Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | biotinidasedeficiëntie screening van pasgeborene commentaar-discussie: Synonyms: biotinidase deficientie |
| pt-BR | Portuguese (Brazil) | Deficiência de biotinidase na triagem neonatal comentários-discussão: Synonyms: Remarks; |
| ru-RU | Russian (Russian Federation) | Биотинидаза недостаточность новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Недостаточность биотинидазы Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Biyotinidaz yetmezliği yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 生物素化物酶缺陷 新生儿筛查注释-讨论: Synonyms: Asympt BIOT SCN 全血斑点(滤纸); |
38478-4 Biotinidase [Presence] in DBS
Part Descriptions
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
Observation Required in Panel
Conditional
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: |
| es-AR | Spanish (Argentina) | biotinidasa: |
| es-MX | Spanish (Mexico) | Biotinidasa: |
| es-ES | Spanish (Spain) | Biotinidasa: |
| et-EE | Estonian (Estonia) | Biotinidaas: Synonyms: Järgarvuline Juhuslik Veri |
| fr-FR | French (France) | Biotinidase: |
| fr-CA | French (Canada) | 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; |
75217-0 Biotinidase [Enzymatic activity/volume] in DBS
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 Descriptions
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
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Biotinidase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- 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 |
|---|---|
| 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-MX | Spanish (Mexico) | Biotinidasa: |
| es-ES | Spanish (Spain) | Biotinidasa: Synonyms: Cuantitativo |
| et-EE | Estonian (Estonia) | Biotinidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Biotinidase: |
| fr-FR | French (France) | Biotinidase: |
| fr-BE | French (Belgium) | Biotinidase: |
| it-IT | Italian (Italy) | Biotinidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | biotinidase: |
| pt-BR | Portuguese (Brazil) | Biotinidase: |
| ru-RU | Russian (Russian Federation) | Биотинидаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Biyotinidaz: |
| zh-CN | Chinese (China) | 生物素化物酶: Synonyms: 催化浓度(单位体积); |
Example Units
| Unit | Source |
|---|---|
| nmol/mL/min | Example UCUM Units |