81199-2
Beta-ureidopropionase [Enzymatic activity/mass] in Liver
Active
Part Description
LP201761-6 Beta-ureidopropionase
Beta-ureidopropionase [UniProt: Q9UBR1] is an enzyme involved in beta-alanine biosynthesis. It is encoded by the UPB1 gene [HGNC Gene ID: 16297]. Mutations in this gene cause beta-ureidopropionase deficiency (BUPD), an inborn error of metabolism characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay.[OMIM: 613161]
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Beta-ureidopropionase
- Property
- CCnt
- Time
- Pt
- System
- Liver
- Scale
- Qn
- Method
Additional Names
- Long Common Name
- Beta-ureidopropionase [Enzymatic activity/mass] in Liver
- Short Name
- Beta-ureidopropionase Liver-cCnt
- Display Name
- Beta-ureidopropionase (Liver) [Catalytic activity/Mass]
- Consumer Name Alpha Get Info
- Beta-ureidopropionase, Liver
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56 (ADD)
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
el-GR | Greek (Greece) | β-ουρεϊδοπροπιονάση: Synonyms: CCnt β-ουρεϊδοπροπιονάση |
es-ES | Spanish (Spain) | Beta-ureidopropionasa: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Beta-ureidopropionasa: |
fr-FR | French (France) | Bêta-uréidopropionase: |
it-IT | Italian (Italy) | Beta-ureidopropionase: Synonyms: Chimica Contenuto Catalitico Punto nel tempo (episodio) |
nl-NL | Dutch (Netherlands) | bèta-ureidopropionase: Synonyms: beta-ureidopropionase |
zh-CN | Chinese (China) | Beta-脲酰丙酸酶: Synonyms: B β β-尿酰丙酸酶 催化含量(单位质量); |
Example Units
Unit | Source |
---|---|
nmol/h/mg{protein} | Example UCUM Units |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=81199-2
LOINC Copyright
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