LOINC
Version 2.73

LP310337-3Cholestane-3-beta, 5-alpha, 6-beta triolActive

Description

LP310337-3   Cholestane-3-beta, 5-alpha, 6-beta triol
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

Name
Cholestane-3-beta, 5-alpha, 6-beta triol
Type
Component
Created On
2019-03-22
Construct for LOINC Short Name
Chol-3b,5a,6b-triol

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP310337-3

Language Variants Get Info

zh-CNChinese (China)
胆甾烷-3-beta, 5-alpha, 6-beta 三醇
Synonyms: 胆甾烷-3-β, 5-α, 6-β 三醇;胆甾烷-3β, 5α, 6β 三醇;Cholestane-3-beta, 5-alpha, 6-beta triol
it-ITItalian (Italy)
Colestano-3-beta, 5-alfa, 6-beta triol
es-ESSpanish (Spain)
Colestano-3-beta, 5-alfa, 6-beta triol