Version 2.79

Description

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. 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 , Alpha fucosidase (Wikipedia)

Basic Part Properties

Part Name
Alpha fucosidase
Part Display Name
Alpha fucosidase
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
A-Fucosidase

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP14334-4

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) Alpha 岩藻糖苷酶
Synonyms: Alpha-L-岩藻糖苷酶;Alpha-岩藻糖苷酶;A-L-岩藻糖苷酶;A-岩藻糖苷酶;α-L-岩藻糖苷酶;α岩藻糖苷酶;α-岩藻糖苷酶;墨角藻糖苷酶缺乏病;岩藻糖苷病
es-ES Spanish (Spain) Alfa fucosidasa
it-IT Italian (Italy) Alfa fucosidasi
et-EE Estonian (Estonia) Alfafukosidaas
tr-TR Turkish (Turkey) Alfa fukozidaz
ru-RU Russian (Russian Federation) Альфа фукозидаза
fr-BE French (Belgium) Alpha-fucosidase
fr-CA French (Canada) Alpha-fucosidase
nl-NL Dutch (Netherlands) alfa-fucosidase
el-GR Greek (Greece) Άλφα φουκοσιδάση
Synonyms: Άλφα φουκοσιδάση