55827-0
LaboratoryAcid alpha glucosidase [Enzymatic activity/volume] in DBS
Definition
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.
LOINC 6-Axis Classification
Component
Acid alpha glucosidase
Property
CCnc
Time Aspect
Pt
System
Bld.dot
Scale Type
Qn
Method Type
N/A
Details
Class
CHEM
Order/Observation
Both
Short Name
Acid A-Glucosidase DBS-cCnc
Display Name
Acid alpha glucosidase (DBS) [Catalytic activity/Vol]
Related Names
Frequently Asked Questions
What is LOINC code 55827-0?
LOINC code 55827-0 identifies "Acid alpha glucosidase [Enzymatic activity/volume] in DBS". 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.
What does 55827-0 measure?
This code measures Acid alpha glucosidase in Bld.dot. It belongs to the CHEM class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.