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Part Description

LP310330-8   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. Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
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]
Consumer Name Alpha Get Info
7-Alpha hydroxy-4-cholesten-3-one, Blood

Part Model Get Info

  • Component
    7-Alpha hydroxy-4-cholesten-3-one
    LP310330-8
    • Analyte
      7-Alpha hydroxy-4-cholesten-3-one
      LP310330-8
      • Component Numerator
        7-Alpha hydroxy-4-cholesten-3-one
        LP310330-8
        • Component Numerator Core
          7-Alpha hydroxy-4-cholesten-3-one
          LP310330-8
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    SCnc
    LP6860-3
  • Time
    Pt
    LP6960-1
  • System
    Ser/Plas
    LP7576-4
    • System Core
      Ser/Plas
      LP7576-4
    • Super System
      NULL
       
  • Scale
    Qn
    LP7753-9
  • Method
    NULL
     

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.66
Last Updated
Version 2.66 (ADD)
Order vs. Observation
Observation

Member of these Panels

LOINCLong Common Name
92746-77-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Serum or Plasma
92743-4Hepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or Plasma

Member of these Groups Get Info

LOINC GroupGroup Name
LG51011-17-Alpha hydroxy-4-cholesten-3-one|Pt|Ser/Plas|400.647 g/mole
LG50882-67-Alpha hydroxy-4-cholesten-3-one|SCnc|Pt|ANYBldSerPl

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)7-alfa-4-cholesten-3-on:Látková koncentrace:Časový bod:Sérum/plazma:Kvantitativní:
el-GRGreek (Greece)7-α υδροξυ-4-χοληστεν-3-όνη:SCnc:Pt:Ορός/Πλάσμα:Qn:
Synonyms: 7-α υδροξυ-4-χοληστεν-3-όνη CHEM Pt Qn SCnc Ορός Ορός/Πλάσμα Πλάσμα
es-ESSpanish (Spain)7-Alfa hidroxi-4-colesten-3-ona:Concentración de sustancia:Punto temporal:Suero o Plasma:Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)7-alfa hidroxi-4-colesten-3-ona:Concentración de sustancias:Punto temporal:Suero o Plasma:Cuantitativo:
fr-FRFrench (France)7-alpha hydroxy-4-cholestène-3-one:Moles/Volume:Ponctuel:Sérum/Plasma:Numérique:
it-ITItalian (Italy)7-Alfa-idrossi-4-colestene-3-one:SCnc:Pt:Siero/Plasma:Qn:
Synonyms: 7α-idrossi-4-colestene-3-one Chimica Concentrazione di Sostanza Plasma Punto nel tempo (episodio) Siero Siero o Plasma
pl-PLPolish (Poland)7-Alfa-hydroksy-4-cholesten-3-on:stężenie molowe:punkt w czasie:surowica lub osocze:ilościowy:
zh-CNChinese (China)7-Alpha 羟基-4-胆甾烯-3-酮:物质的量浓度:时间点:血清/血浆:定量型:
Synonyms: Ⅲ 7-α 羟基-4-胆甾烯-3-酮;7α 羟基-4-胆甾烯-3-酮;7-Alpha 羟基-4-胆甾烯-3-酮;7-Alpha hydroxy-4-cholesten-3-one Hydroxy III OH α 三 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 叁 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 羟 血清或血浆 阿尔法

Example Units

UnitSource
nmol/mLExample UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=92761-6