LP207802-2
Frataxin
Active
Description
The concentration of the mitochondrial protein frataxin can be used to both diagnose and monitor treatment for patients with Friedreich ataxia (FA). Decreased frataxin protein levels are diagnostic of FA and can be utilized for monitoring known patients. FA is an autosomal recessive disease affecting approximately 1:50,000 Caucasians. The disease is clinically characterized by progressive spasticity, ataxia, dysarthria, absent lower limb reflexes, sensory loss, and scoliosis. Hypertrophic cardiomyopathy is present in approximately two-thirds of patients with FA and the most frequent cause of premature death. FA is caused by mutations in the FXN gene encoding frataxin. Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Frataxin
- Part Display Name
- Frataxin
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-02-25
- Construct for LOINC Short Name
- Frataxin
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 线粒体型共济失调蛋白 Synonyms: 铁硫簇相关蛋白; |
| es-ES | Spanish (Spain) | Frataxina |
| it-IT | Italian (Italy) | Fratassina |
| nl-NL | Dutch (Netherlands) | frataxine |
| fr-FR | French (France) | Frataxine |
| el-GR | Greek (Greece) | Φραταξίνη Synonyms: Φραταξίνη |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://