Version 2.78

Description

Pompe disease (also known as glycogen storage disease type II and acid maltase deficiency) is an autosomal recessive disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). Prompt diagnosis and initiation of enzyme replacement therapy with recombinant human GAA (rhGAA) are critical for reducing mortality and disability. A key predictor of clinical response to replacement therapy is a patient's CRIM (cross-reactive immunological material to GAA) status, which is based on the presence or absence of endogenous GAA. Patients who are CRIM-positive produce detectable GAA and are typically immunologically tolerant of rhGAA, whereas approximately 20% of patients who are CRIM-negative develop high levels of antibodies against exogenous rhGAA, which eventually reduces the efficacy of therapy PMID: 24044919. Source: Regenstrief LOINC

Basic Part Properties

Part Display Name
Acid alpha glucosidase cross-reactive immunologic material (CRIM)
Part Type
Component (Describes the core component or analyte measured)
Created On
2021-08-27
Construct for LOINC Short Name
AAG CRIM

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP429267-0

Language Variants Get Info

Tag Language Translation
it-IT Italian (Italy) Alfa-glucosidasi acida materiale immunologico cross-reattivo (CRIM)
es-ES Spanish (Spain) Material inmunológico de reacción cruzada con alfa glucosidasa ácida (CRIM)
zh-CN Chinese (China) 酸性 alpha 葡萄糖苷酶交叉反应免疫物质
Synonyms: 酸性α葡萄糖苷酶交叉反应免疫物质;酸性α葡萄糖苷酶交叉反应性免疫物质;酸性α葡萄糖苷酶 CRIM;酸性α葡萄糖苷酶交叉免疫反应物质;酸性 alpha 葡萄糖苷酶交叉反应性免疫物质