Alpha galactosidase A:CCnc:Pt:Bld.dot:Qn:

Preferred Label : Alpha galactosidase A:CCnc:Pt:Bld.dot:Qn:;

LOINC status : ACTIVE;

LOINC display name : Alpha galactosidase A (DBS) [Catalytic activity/Vol];

LOINC long common name : Alpha galactosidase A [Enzymatic activity/volume] in DBS;

LOINC short name : A-Galactosidase A DBS-cCnc;

LOINC description : This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Fabry disease, which is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.;

Details

Origin ID

55908-8;

UMLS CUI

C2739524;

Has component
- Alpha galactosidase A [LOINC component]
Has property
- Catalytic Concentration [LOINC Property]
Has system
- Blood [LOINC System]
- DBS [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Part of panel
- Fabry disease newborn screening panel:-:Pt:Bld.dot:-: [LOINC code]
- Lysosomal and peroxisomal storage disorders panel:-:Pt:Bld.dot:-: [LOINC code]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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