92751-7  Glucopsychosine [Moles/​volume] in BloodGlucopsychosine [Moles/​volume] in BloodGlucopsychosine: SCnc: Pt: Bld: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Glucopsychosine  SCnc  Pt  Bld  Qn 
  Long Common Name:  Glucopsychosine [Moles/volume] in Blood
  Short Name:  Glucopsychosine Bld-sCnc
  Display Name:  Glucopsychosine (Bld) [Moles/Vol]

PART DEFINITION/DESCRIPTION(S)
  Part: Glucopsychosine
  Glucopsychosine (also called glucosylsphingosine) is a biomarker for selective deficiency of the enzyme, beta-glucocerebrosidase (beta-glucosidase), the cause of the autosomal recessive lysosomal storage disorder Gaucher disease. There are 3 types of Gaucher disease, all of which include hepatosplenomegaly and hematological abnormalities. Type I, the most common, also includes coagulation abnormalities, bone and lung involvement, whereas type II is rapidly progressive and includes CNS involvement. Type III is more slowly progressive. Laboratory confirmation can include the demonstration of reduced beta-glucosidase activity, molecular analysis of the GBA gene, and elevated blood glucopsychosine. Measurement of glucopsychosine may also help in assessing response to enzyme replacement therapy [PMID:27441734] .
 
 

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

MEMBER OF THESE EQUIVALENCE GROUPS
  LG50879-2  Glucopsychosine|SCnc|Pt|ANYBldSerPl

PARTS

Part Type    Part No.  Part Name   
Component   LP310332-4  Glucopsychosine 
Property   LP6860-3  SCnc   [Substance Concentration] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP7057-5  Bld   [Blood] 
Scale   LP7753-9  Qn 

RELATED NAMES
  2-[(E)-2-Amino-3-hydroxyoctadec-4-enoxy]-6-(hydroxymethyl)oxane-3,4,5-triol Level Random
  Blood Point in time Substance concentration
  Chemistry QNT WB
  glucosyl psychosine Quan Whole blood
  glucosyl sphingosine Quant  
  glucosylsphingosine Quantitative  

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 8:54:30 AM
  Long Common Name: Glucopsychosine [Moles/volume] in Blood
  Shortname: Glucopsychosine Bld-sCnc
  Fully Specified Name: Glucopsychosine: SCnc: Pt: Bld: Qn:
     
  Component Word Count: 1
  ID: 100294
  Status (Raw): ACTIVE