LP310354-8
7-Ketocholesterol
Active
Description
The oxidation products of cholesterol, particularly cholestane-3beta,5alpha,6beta-triol and 7-ketocholesterol, have proven to be sensitive and specific biomarkers for early detection of Niemann Pick type C (NPC) disease. NPC disease is a rare genetic disorder that results in the accumulation of cholesterol and other lipids internally. Patients often present in childhoold with hepatospenomegaly and central nervous system degeneration, although the presentation is broad and adult-onset psychiatric or visceral disease can occur. Mutations in the NPC1 or NPC2 gene are responsible, with the vast majority ocurring in NPC1. Prior to cholestane-3beta,5alpha,6beta-triol and 7-ketocholesterol, filipin staining of skin biopsy material was the assay of choice, although it was cumbersome, insensitive, and not widely avaialble PMID: 21518695. Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- 7-Ketocholesterol
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2019-03-25
- Construct for LOINC Short Name
- 7-Ketochol
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 7-酮基胆固醇 Synonyms: 7-酮胆固醇; |
| it-IT | Italian (Italy) | 7-Chetocolesterolo |
| es-ES | Spanish (Spain) | 7-Ketocolesterol |
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