LP14334-4

Alpha fucosidase

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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

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