Acid alpha glucosidase:CCnc:Pt:Bld.dot:Qn:

Preferred Label : Acid alpha glucosidase:CCnc:Pt:Bld.dot:Qn:;

LOINC status : ACTIVE;

LOINC display name : Acid alpha glucosidase (DBS) [Catalytic activity/Vol];

LOINC long common name : Acid alpha glucosidase [Enzymatic activity/volume] in DBS;

LOINC short name : Acid A-Glucosidase DBS-cCnc;

LOINC description : This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Pompe disease, which is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.;

Details

Origin ID

55827-0;

UMLS CUI

C2733725;

Has component
- Acid alpha glucosidase [LOINC component]
- Glucosidase [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
- Lysosomal and peroxisomal storage disorders panel:-:Pt:Bld.dot:-: [LOINC code]
- Pompe disease newborn screening panel:-:Pt:Bld.dot:-: [LOINC code]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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