17839-2
Alpha fucosidase [Enzymatic activity/volume] in Blood
Active
Part Description
LP14334-4 Alpha fucosidase
Tissue alpha-L-fucosidase is an enzyme that in humans is encoded by the FUCA1 gene. Alpha-Fucosidase is an enzyme that breaks down fucose.
Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal dysplasia in yet another form.
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Source: Wikipedia, Alpha fucosidase (Wikipedia)
Fully-Specified Name
- Component
- Alpha fucosidase
- Property
- CCnc
- Time
- Pt
- System
- Bld
- Scale
- Qn
- Method
Additional Names
- Short Name
- A-Fucosidase Bld-cCnc
- Display Name
- Alpha fucosidase (Bld) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Alpha fucosidase, Blood
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 1.0l
- Last Updated
- Version 2.42
- Order vs. Observation
- Both
Member of these Groups Get Info
LOINC Group | Group Name |
---|---|
LG5668-1 | Alpha fucosidase| |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
de-DE | German (Germany) | Alpha-Fucosidase: |
es-AR | Spanish (Argentina) | alfa fucosidasa: |
es-ES | Spanish (Spain) | Alfa fucosidasa: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Alfa fucosidasa: |
et-EE | Estonian (Estonia) | Alfafukosidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
fr-CA | French (Canada) | Alpha-fucosidase: |
fr-FR | French (France) | Alpha fucosidase: |
fr-BE | French (Belgium) | Alpha-fucosidase: |
it-IT | Italian (Italy) | Alfa fucosidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue |
ko-KR | Korean (Korea, Republic Of) | 알파 푸코시다제: |
nl-NL | Dutch (Netherlands) | alfa-fucosidase: |
pt-BR | Portuguese (Brazil) | Alfa fucosidase: Synonyms: ; |
ru-RU | Russian (Russian Federation) | Альфа фукозидаза: Synonyms: Каталитическая концентрация Количественный Кровь Точка во времени; |
tr-TR | Turkish (Turkey) | Alfa fukozidaz: |
zh-CN | Chinese (China) | Alpha 岩藻糖苷酶: Synonyms: Alpha-L-岩藻糖苷酶; |
Example Units
Unit | Source |
---|---|
nmol/h/mL | Example UCUM Units |
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=17839-2
LOINC Copyright
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