92743-4  Hepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or PlasmaHepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or PlasmaHepatosplenomegaly due to lysosomal storage disorders screening panel: -: Pt: Ser/​Plas: -:  

PANEL HIERARCHY  (view this panel in the LForms viewer)

  LOINC#   LOINC Name R/O/C  Cardinality  Ex. UCUM Units 
  92743-4   Hepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or PlasmaHepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or PlasmaHepatosplenomegaly due to lysosomal storage disorders screening panel: -: Pt: Ser/​Plas: -:    
       92755-8   Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/​volume] in Serum or PlasmaCholestane-3-beta, 5-alpha, 6-beta triol [Moles/​volume] in Serum or PlasmaCholestane-3-beta, 5-alpha, 6-beta triol: SCnc: Pt: Ser/​Plas: Qn:   nmol/mL 
       92747-5   Lyso-sphingomyelin [Moles/​volume] in Serum or PlasmaLyso-sphingomyelin [Moles/​volume] in Serum or PlasmaLyso-sphingomyelin: SCnc: Pt: Ser/​Plas: Qn:   nmol/mL 
       92750-9   Glucopsychosine [Moles/​volume] in Serum or PlasmaGlucopsychosine [Moles/​volume] in Serum or PlasmaGlucopsychosine: SCnc: Pt: Ser/​Plas: Qn:   nmol/mL 
       92761-6   7-Alpha hydroxy-4-cholesten-3-one [Moles/​volume] in Serum or Plasma7-Alpha hydroxy-4-cholesten-3-one [Moles/​volume] in Serum or Plasma7-Alpha hydroxy-4-cholesten-3-one: SCnc: Pt: Ser/​Plas: Qn:   nmol/mL 
       92758-2   7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/​volume] in Serum or Plasma7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/​volume] in Serum or Plasma7-Alpha,12-alpha dihydroxycholest-4-en-3-one: SCnc: Pt: Ser/​Plas: Qn:   nmol/mL 
       90234-6   Globotriaosylsphingosine [Mass/​volume] in SerumGlobotriaosylsphingosine [Mass/​volume] in SerumGlobotriaosylsphingosine: MCnc: Pt: Ser: Qn:   ng/mL 
 

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Hepatosplenomegaly due to lysosomal storage disorders screening panel  Pt  Ser/Plas 
  Long Common Name:  Hepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or Plasma
  Short Name:  HepSplenMeg Pnl SerPl
  Display Name:  Hepatosplenomegaly due to lysosomal storage disorders screening panel

TERM DEFINITION/DESCRIPTION(S)
  This panel is used to screen patients who present with hepatosplenomegaly for lysosomal and lipid storage disorders such as cerebrotendinous xanthomatosis, Gaucher disease, and Niemann-Pick diseases types A, B, and C.
 
 

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

PARTS

Part Type    Part No.  Part Name   
Component   LP310429-8  Hepatosplenomegaly due to lysosomal storage disorders screening panel 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP7576-4  Ser/Plas   [Serum or Plasma] 
Scale   LP7747-1 
Fragments for synonyms   LP21059-8  Panel 
Fragments for synonyms   LP34059-3  Screening 

RELATED NAMES
  Asympt Pl SerPl
  Asymptomatic Plasma SerPlas
  Chemistry Plsm Serum
  HepSplenMeg Pnl Pnl Serum or plasma
  LSD Point in time SR
  Pan Random  
  PANEL.CHEMISTRY Scn  
  Panl SerP  

CHANGE HISTORY
  Change Type: ADD

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 8:54:09 AM
  Long Common Name: Hepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or Plasma
  Shortname: HepSplenMeg Pnl SerPl
  Fully Specified Name: Hepatosplenomegaly due to lysosomal storage disorders screening panel: -: Pt: Ser/Plas: -:
     
  Component Word Count: 8
  ID: 100286
  # of Panel Elements: 7
  Status (Raw): ACTIVE



Selected information about each LOINC that is part of this panel



92755-8   Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/​volume] in Serum or PlasmaCholestane-3-beta, 5-alpha, 6-beta triol [Moles/​volume] in Serum or PlasmaCholestane-3-beta, 5-alpha, 6-beta triol: SCnc: Pt: Ser/​Plas: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Cholestane-3-beta, 5-alpha, 6-beta triol  SCnc  Pt  Ser/Plas  Qn 
  Long Common Name:  Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/volume] in Serum or Plasma
  Short Name:  Chol-3b,5a,6b-triol SerPl-sCnc
  Display Name:  Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/Vol]

PART DEFINITION/DESCRIPTION(S)
  Part: 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] .
 
 

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  
  92740-0 Oxysterols panel - Serum or Plasma
  92743-4 Hepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or Plasma
  

MEMBER OF THESE EQUIVALENCE GROUPS
  LG50880-0  Cholestane-3-beta, 5-alpha, 6-beta triol|SCnc|Pt|ANYBldSerPl

PARTS

Part Type    Part No.  Part Name   
Component   LP310337-3  Cholestane-3-beta, 5-alpha, 6-beta triol 
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 
Fragments for synonyms   LP21267-7 
Fragments for synonyms   LP28489-0  Alpha 
Fragments for synonyms   LP28789-3  Beta 

RELATED NAMES
  5alpha,6beta-Dihydroxycholestanol Level SerP
  5-alpha,6-beta-Dihydroxycholestanol Pl SerPl
  Alfa Plasma SerPlas
  B Plsm Serum
  Chemistry Point in time Serum or plasma
  Chol-3b,5a,6b-triol QNT SR
  Cholestane-3,5,6-triol Quan Substance concentration
  Cholestane-3beta,5alpha,6beta-triol Quant  
  COT Quantitative  
  III Random  

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 8:54:10 AM
  Long Common Name: Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/volume] in Serum or Plasma
  Shortname: Chol-3b,5a,6b-triol SerPl-sCnc
  Fully Specified Name: Cholestane-3-beta, 5-alpha, 6-beta triol: SCnc: Pt: Ser/Plas: Qn:
     
  Component Word Count: 8
  ID: 100298
  Status (Raw): ACTIVE


92747-5   Lyso-sphingomyelin [Moles/​volume] in Serum or PlasmaLyso-sphingomyelin [Moles/​volume] in Serum or PlasmaLyso-sphingomyelin: SCnc: Pt: Ser/​Plas: Qn:  

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

PART DEFINITION/DESCRIPTION(S)
  Part: Lyso-sphingomyelin
  Lyso-sphingomyelin (LSM, sphingosylphosphorylcholine) is a biomarker for Niemann-Pick disease types A, B and C, genetically distinct metabolic disorders. Niemann-Pick types A/B and C share clinical features including hepatospenomegaly and specific neurological symptoms. Types A and B are caused by mutations in the SMPD1 gene (or acid sphingomyelinase), while type C is caused by mutations in the NPC1 or NPC2 genes. Both type A/B and C Niemann-Pick show increased plasma levels of LSM and/or its analog Lyso-sphingomyelin509 (LSM509), and it has been suggested that Niemann-Pick A and B can be biochemically distinguished from C by comparing plasma levels of LSM and LSM509. Niemann-Pick type C can also be specifically diagnosed by the levels of oxysterols in blood or plasma [PMID:28259515] .
 
 

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  
  92740-0 Oxysterols panel - Serum or Plasma
  92743-4 Hepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or Plasma
  

MEMBER OF THESE EQUIVALENCE GROUPS
  LG50878-4  Lyso-sphingomyelin|SCnc|Pt|ANYBldSerPl

PARTS

Part Type    Part No.  Part Name   
Component   LP310425-6  Lyso-sphingomyelin 
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
  Chemistry QNT Serum or plasma
  Level Quan SPC
  LSM Quant SPH
  Lysosphingomyelin Quantitative Sphingosylphosphorylcholine
  Niemann-Pick Random SR
  Pl SerP Substance concentration
  Plasma SerPl  
  Plsm SerPlas  
  Point in time Serum  

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 8:54:10 AM
  Long Common Name: Lyso-sphingomyelin [Moles/volume] in Serum or Plasma
  Shortname: LSM SerPl-sCnc
  Fully Specified Name: Lyso-sphingomyelin: SCnc: Pt: Ser/Plas: Qn:
     
  Component Word Count: 2
  ID: 100290
  Status (Raw): ACTIVE


92750-9   Glucopsychosine [Moles/​volume] in Serum or PlasmaGlucopsychosine [Moles/​volume] in Serum or PlasmaGlucopsychosine: SCnc: Pt: Ser/​Plas: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Glucopsychosine  SCnc  Pt  Ser/Plas  Qn 
  Long Common Name:  Glucopsychosine [Moles/volume] in Serum or Plasma
  Short Name:  Glucopsychosine SerPl-sCnc
  Display Name:  Glucopsychosine [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   LP7576-4  Ser/Plas   [Serum or Plasma] 
Scale   LP7753-9  Qn 

RELATED NAMES
  2-[(E)-2-Amino-3-hydroxyoctadec-4-enoxy]-6-(hydroxymethyl)oxane-3,4,5-triol Plsm SerPl
  Chemistry Point in time SerPlas
  glucosyl psychosine QNT Serum
  glucosyl sphingosine Quan Serum or plasma
  glucosylsphingosine 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 8:54:11 AM
  Long Common Name: Glucopsychosine [Moles/volume] in Serum or Plasma
  Shortname: Glucopsychosine SerPl-sCnc
  Fully Specified Name: Glucopsychosine: SCnc: Pt: Ser/Plas: Qn:
     
  Component Word Count: 1
  ID: 100293
  Status (Raw): ACTIVE


92761-6   7-Alpha hydroxy-4-cholesten-3-one [Moles/​volume] in Serum or Plasma7-Alpha hydroxy-4-cholesten-3-one [Moles/​volume] in Serum or Plasma7-Alpha hydroxy-4-cholesten-3-one: SCnc: Pt: Ser/​Plas: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
7-Alpha hydroxy-4-cholesten-3-one  SCnc  Pt  Ser/Plas  Qn 
  Long Common Name:  7-Alpha hydroxy-4-cholesten-3-one [Moles/volume] in Serum or Plasma
  Short Name:  7a-OH-4-chol-3-one SerPl-sCnc
  Display Name:  7-Alpha hydroxy-4-cholesten-3-one [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  
  92743-4 Hepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or Plasma
  92746-7 7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Serum or Plasma
  

MEMBER OF THESE EQUIVALENCE GROUPS
  LG50882-6  7-Alpha hydroxy-4-cholesten-3-one|SCnc|Pt|ANYBldSerPl

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   LP7576-4  Ser/Plas   [Serum or Plasma] 
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 Pl SerP
  7a-OH-4-chol-3-one Plasma SerPl
  7-hydroxy-4-cholesten-3-one Plsm SerPlas
  Alfa Point in time Serum
  Chemistry QNT Serum or plasma
  Hydrox Quan SR
  III Quant Substance concentration
  Level Quantitative  
  OH Random  

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 8:54:11 AM
  Long Common Name: 7-Alpha hydroxy-4-cholesten-3-one [Moles/volume] in Serum or Plasma
  Shortname: 7a-OH-4-chol-3-one SerPl-sCnc
  Fully Specified Name: 7-Alpha hydroxy-4-cholesten-3-one: SCnc: Pt: Ser/Plas: Qn:
     
  Component Word Count: 7
  ID: 100304
  Status (Raw): ACTIVE


92758-2   7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/​volume] in Serum or Plasma7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/​volume] in Serum or Plasma7-Alpha,12-alpha dihydroxycholest-4-en-3-one: SCnc: Pt: Ser/​Plas: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
7-Alpha,12-alpha dihydroxycholest-4-en-3-one  SCnc  Pt  Ser/Plas  Qn 
  Long Common Name:  7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/volume] in Serum or Plasma
  Short Name:  7a12aDiOHchol4en3one SerPl-sCnc
  Display Name:  7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/Vol]

PART DEFINITION/DESCRIPTION(S)
  Part: 7-Alpha,12-alpha dihydroxycholest-4-en-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  
  92743-4 Hepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or Plasma
  92746-7 7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Serum or Plasma
  

MEMBER OF THESE EQUIVALENCE GROUPS
  LG50881-8  7-Alpha,12-alpha dihydroxycholest-4-en-3-one|SCnc|Pt|ANYBldSerPl

PARTS

Part Type    Part No.  Part Name   
Component   LP310327-4  7-Alpha,12-alpha dihydroxycholest-4-en-3-one 
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 
Fragments for synonyms   LP21267-7 
Fragments for synonyms   LP28489-0  Alpha 

RELATED NAMES
  7a,12a-dihydroxy-4-cholesten-3-one Plasma SerPl
  7a12aDiOHchol4en3one Plsm SerPlas
  7-alpha,12-alpha-dihydroxycholest-4-en-3-one Point in time Serum
  7alpha,12alpha-Dihydroxycholest-4-en-3-one QNT Serum or plasma
  Alfa Quan SR
  Chemistry Quant Substance concentration
  III Quantitative  
  Level Random  
  Pl 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 8:54:12 AM
  Long Common Name: 7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/volume] in Serum or Plasma
  Shortname: 7a12aDiOHchol4en3one SerPl-sCnc
  Fully Specified Name: 7-Alpha,12-alpha dihydroxycholest-4-en-3-one: SCnc: Pt: Ser/Plas: Qn:
     
  Component Word Count: 9
  ID: 100301
  Status (Raw): ACTIVE


90234-6   Globotriaosylsphingosine [Mass/​volume] in SerumGlobotriaosylsphingosine [Mass/​volume] in SerumGlobotriaosylsphingosine: MCnc: Pt: Ser: Qn:  

NAME
  Fully Specified Name: 
Component   Property   Time   System   Scale   Method
Globotriaosylsphingosine  MCnc  Pt  Ser  Qn 
  Long Common Name:  Globotriaosylsphingosine [Mass/volume] in Serum
  Short Name:  Globotriaosylsphingosine Ser-mCnc
  Display Name:  Globotriaosylsphingosine (S) [Mass/Vol]

PART DEFINITION/DESCRIPTION(S)
  Part: Globotriaosylsphingosine
  Globotriaosylsphingosine (lyso-Gb3) is the deacylated, cationic, amphiphilic glycolipid product of globotriaosylceramide (Gb3). Gb3, lyso-Gb3, and an un-described additional metabolite of Gb3 are markedly increased in the plasma of male patients with classic Fabry disease. Fabry disease is caused by a deficiency of alpha-galactosidase A due to a mutation in the alpha-galactosidase A gene on the X chromosome. It leads to renal insufficiency, cardiac hypertrophy, and neuropathy that is thought to be due to the accumulation of Gb3 in the endothelium. However, treatment of Fabry disease with enzyme therapy decreases the Gb3 in the endothelium, but does not eliminate disease symptoms to the degree expected. In addition, plasma and urinary levels of Gb3 do not correlate with disease severity which suggests little or no correlation of the plasma level of Gb3 and the cause of disease. The plasma levels that do correlate with symptoms of disease are lyso-Gb3. Lyso-Gb3 is present in the plasma of Fabry patients in much higher levels than Gb3. It is believed to inhibit the activity of alpha-galactosidase A, promote the storage of Gb3, and induce the proliferation of smooth muscle cells in vitro. In Fabry disease, there is known accelerated hypertrophy of the walls of the radial artery and a thickening of the intima media of the common carotid artery as a result of smooth muscle cell proliferation. [PMID: 18287059]
 
 

BASIC ATTRIBUTES
  Class/Type: CHEM/Lab
  First Released in Version: 2.65
  Last Updated in Version: 2.65
  Order vs. Obs.: Both
  Status: Active

PARTS

Part Type    Part No.  Part Name   
Component   LP268082-7  Globotriaosylsphingosine 
Property   LP6827-2  MCnc   [Mass Concentration] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP7567-3  Ser   [Serum] 
Scale   LP7753-9  Qn 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  三聚己糖神经鞘氨醇:质量浓度:时间点:血清:定量型:三聚己糖神经鞘氨醇:质量浓度:时间点:血清:定量型:
  Italian (ITALY)  (From: Regenstrief-generated full translation based on part translation provided by Consiglio Nazionale delle Ricerche)
 
  Globotriaosylsphingosine:MCnc:Pt:Siero:Qn:Globotriaosylsphingosine:MCnc:Pt:Siero:Qn:
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Globotriaosilesfingosina:Concentración de masa:Punto temporal:Suero:Qn:Globotriaosilesfingosina:Concentración de masa:Punto temporal:Suero:Qn:

RELATED NAMES
  Chemistry Lyso-Gb3 Quantitative
  Fabry disease Mass concentration Random
  Globotriaosyl lysosphingolipid Point in time Serum
  Level QNT SR
  LGb3 Quan  
  Lysogb3 Quant  

EXAMPLE UNITS
  Unit  Source Type
  ng/mL  EXAMPLE UCUM UNITS 

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

CHANGE HISTORY
  Change Type: ADD

INTERNAL FIELDS
  Detail Page Created On: 6/20/2019 8:54:12 AM
  Long Common Name: Globotriaosylsphingosine [Mass/volume] in Serum
  Shortname: Globotriaosylsphingosine Ser-mCnc
  Fully Specified Name: Globotriaosylsphingosine: MCnc: Pt: Ser: Qn:
     
  Component Word Count: 1
  ID: 97365
  Status (Raw): ACTIVE