92764-0  7-Ketocholesterol [Moles/​volume] in Serum or Plasma7-Ketocholesterol [Moles/​volume] in Serum or Plasma7-Ketocholesterol: SCnc: Pt: Ser/​Plas: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
7-Ketocholesterol  SCnc  Pt  Ser/Plas  Qn 
  Long Common Name:  7-Ketocholesterol [Moles/volume] in Serum or Plasma
  Short Name:  7-Ketochol SerPl-sCnc
  Display Name:  7-Ketocholesterol [Moles/Vol]

PART DEFINITION/DESCRIPTION(S)
  Part: 7-Ketocholesterol
  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] .
 
 

BASIC ATTRIBUTES
  Class/Type: CHEM/Lab
  First Released in Version: 2.66
  Last Updated in Version: 2.66
  Order vs. Obs.: Observation
  Status: Active

PARTS

Part Type    Part No.  Part Name   
Component   LP310354-8  7-Ketocholesterol 
Property   LP6860-3  SCnc   [Substance Concentration] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP7576-4  Ser/Plas   [Serum or Plasma] 
Scale   LP7753-9  Qn 

RELATED NAMES
  3-beta-Hydroxycholest-5-en-7-one Plsm SerPl
  7-keto-cholesterol Point in time SerPlas
  7-oxo-cholesterol QNT Serum
  7-Oxocholesterol Quan Serum or plasma
  Chemistry Quant SR
  Level Quantitative Substance concentration
  Pl Random  
  Plasma SerP  

EXAMPLE UNITS
  Unit  Source Type
  nmol/mL  EXAMPLE UCUM UNITS 

UNITS (INTERNAL DETAILS)
  Source Type:  EXAMPLE UCUM UNITS 
  Unit:  nmol/mL 

CHANGE HISTORY
  Change Type: ADD

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 8:54:46 AM
  Long Common Name: 7-Ketocholesterol [Moles/volume] in Serum or Plasma
  Shortname: 7-Ketochol SerPl-sCnc
  Fully Specified Name: 7-Ketocholesterol: SCnc: Pt: Ser/Plas: Qn:
     
  Component Word Count: 2
  ID: 100307
  Status (Raw): ACTIVE