92763-2  7-Alpha hydroxy-4-cholesten-3-one [Moles/​volume] in DBS7-Alpha hydroxy-4-cholesten-3-one [Moles/​volume] in DBS7-Alpha hydroxy-4-cholesten-3-one: SCnc: Pt: Bld.dot: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
7-Alpha hydroxy-4-cholesten-3-one  SCnc  Pt  Bld.dot  Qn 
  Long Common Name:  7-Alpha hydroxy-4-cholesten-3-one [Moles/volume] in DBS
  Short Name:  7a-OH-4-chol-3-one DBS-sCnc
  Display Name:  7-Alpha hydroxy-4-cholesten-3-one (DBS) [Moles/Vol]

PART DEFINITION/DESCRIPTION(S)
  Part: 7-Alpha hydroxy-4-cholesten-3-one
  The detection of plasma or blood ketosterol bile acid precursors, specifically 7alpha-hydroxy-4-cholesten-3-one, 7alpha,12alpha-dihydroxy-4-cholesten-3-one and 7alpha,12alpha-dihydroxy-5beta-cholestan-3-one, is sensitive for the diagnosis of cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive disorder of bile acid synthesis that causes neurodegeneration and premature death. CTX is associated with a deficiency in the mitochondria enzyme, sterol 27-hydroxylase (CYP27A1), which converts cholesterol to bile acids. Symptoms include diarrhea and juvenile cataracts in children, progressing to tendon and cerebral xanthomas with neurological deterioration and death. Because there is an effective therapy (oral replacement of chenodeoxycholic acid, the main bile acid deficient in CTX), it is critical to diagnose as early as possible. Prior to the more sensitive ketosterol bile acid precursors, diagnosis had depended on measurement of elevated 5-alpha-cholestanol [PMID:24769274] .
 
 

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 PANELS     
  This section provides information about panels that contain this LOINC code.
  LOINC   Long Common Name  
  92739-2 7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - DBS
  92745-9 Hepatosplenomegaly due to lysosomal storage disorders screening panel - DBS
  

PARTS

Part Type    Part No.  Part Name   
Component   LP310330-8  7-Alpha hydroxy-4-cholesten-3-one 
Property   LP6860-3  SCnc   [Substance Concentration] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP21304-8  Bld.dot   [DBS] 
Scale   LP7753-9  Qn 
Fragments for synonyms   LP20785-9  Hydroxy 
Fragments for synonyms   LP21267-7 
Fragments for synonyms   LP28489-0  Alpha 

RELATED NAMES
  7a-hydroxy-4-cholesten-3-one Filter paper Quan
  7a-OH-4-chol-3-one FP Quant
  7-hydroxy-4-cholesten-3-one Hydrox Quantitative
  Alfa III Random
  Blood Level Substance concentration
  Chemistry OH WB
  DBS Point in time Whole blood
  Dried blood spot QNT  

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 8:54:44 AM
  Long Common Name: 7-Alpha hydroxy-4-cholesten-3-one [Moles/volume] in DBS
  Shortname: 7a-OH-4-chol-3-one DBS-sCnc
  Fully Specified Name: 7-Alpha hydroxy-4-cholesten-3-one: SCnc: Pt: Bld.dot: Qn:
     
  Component Word Count: 7
  ID: 100306
  Status (Raw): ACTIVE