Version 2.79

92758-2 7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/volume] in Serum or Plasma

Part Descriptions

LP310327-4   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. Source: Regenstrief LOINC

Fully-Specified Name

Component
7-Alpha,12-alpha dihydroxycholest-4-en-3-one
Property
SCnc
Time
Pt
System
Ser/Plas
Scale
Qn
Method

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

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

Member of these Groups Get Info

LOINC Group Group Name
LG50881-8 7-Alpha,12-alpha dihydroxycholest-4-en-3-one|SCnc|Pt|ANYBldSerPl

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) 7-α,12-α διυδροξυ-χολεστ-4-εν-3-όνη:SCnc:Pt:Ορός/Πλάσμα:Qn:
Synonyms: 7-α,12-α διυδροξυ-χολεστ-4-εν-3-όνη SCnc
es-ES Spanish (Spain) 7-alfa, 12-alfa dihidroxicolest-4-en-3-ona:Concentración de sustancia:Punto temporal:Suero o Plasma:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) 7-alfa, 12-alfa dihidroxicolest-4-en-3-ona:Concentración de sustancias:Punto temporal:Suero o Plasma:Cuantitativo:
fr-FR French (France) 7-alpha,12-alpha dihydroxycholest-4-en-3-one:Moles/Volume:Ponctuel:Sérum/Plasma:Numérique:
it-IT Italian (Italy) 7-Alfa,12-alfa diidrossicolest-4-en-3-one & 7-Alfa idrossi-4-colesten-3-one, panel:SCnc:Pt:Siero/Plasma:Qn:
Synonyms: Chimica Concentrazione di Sostanza Panel 7-Alfa,12-alfa diidrossicolest-4-en-3-one e 7-Alfa idrossi-4-colesten-3-one Plasma Punto nel tempo (episodio) Siero Siero o Plasma
zh-CN Chinese (China) 7-Alpha,12-alpha 二羟基胆甾-4-烯-3-酮:物质的量浓度:时间点:血清/血浆:定量型:
Synonyms: Ⅲ 7,12-二羟基-4-胆甾烯-3-酮;7α,12α-二羟基-4-胆甾烯-3-酮;7-α,12-α 二羟基胆甾-4-烯-3-酮;7α,12α 二羟基胆甾-4-烯-3-酮;7-Alpha,12-alpha dihydroxycholest-4-en-3-one;CAS 1254-03-1 III 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 血清或血浆 阿尔法

Example Units

Unit Source
nmol/mL Example UCUM Units

92761-6 7-Alpha hydroxy-4-cholesten-3-one [Moles/volume] in Serum or Plasma

Part Descriptions

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

Fully-Specified Name

Component
7-Alpha hydroxy-4-cholesten-3-one
Property
SCnc
Time
Pt
System
Ser/Plas
Scale
Qn
Method

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

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

Member of these Groups Get Info

LOINC Group Group Name
LG51011-1 7-Alpha hydroxy-4-cholesten-3-one|Pt|Ser/Plas|400.647 g/mole
LG50882-6 7-Alpha hydroxy-4-cholesten-3-one|SCnc|Pt|ANYBldSerPl

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) 7-α υδροξυ-4-χοληστεν-3-όνη:SCnc:Pt:Ορός/Πλάσμα:Qn:
Synonyms: 7-α υδροξυ-4-χοληστεν-3-όνη SCnc
es-ES Spanish (Spain) 7-Alfa hidroxi-4-colesten-3-ona:Concentración de sustancia:Punto temporal:Suero o Plasma:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) 7-alfa hidroxi-4-colesten-3-ona:Concentración de sustancias:Punto temporal:Suero o Plasma:Cuantitativo:
fr-FR French (France) 7-alpha hydroxy-4-cholestène-3-one:Moles/Volume:Ponctuel:Sérum/Plasma:Numérique:
it-IT Italian (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
zh-CN Chinese (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

Unit Source
nmol/mL Example UCUM Units