92737-6
7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Blood
Active
92759-0 7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/volume] in Blood
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
- Bld
- Scale
- Qn
- Method
Additional Names
- Short Name
- 7a12aDiOHchol4en3one Bld-sCnc
- Display Name
- 7-Alpha,12-alpha dihydroxycholest-4-en-3-one (Bld) [Moles/Vol]
- Consumer Name Alpha Get Info
- 7-Alpha,12-alpha dihydroxycholest-4-en-3-one, Blood
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 92737-6 | 7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Blood |
| 92744-2 | Hepatosplenomegaly due to lysosomal storage disorders screening panel - Blood |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG50881-8 | 7-Alpha,12-alpha dihydroxycholest-4-en-3-one| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 7-alfa, 12-alfa dihidroxicolest-4-en-3-ona: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 7-alfa, 12-alfa dihidroxicolest-4-en-3-ona: |
| fr-FR | French (France) | 7-alpha,12-alpha dihydroxycholest-4-en-3-one: |
| it-IT | Italian (Italy) | 7-Alfa,12-alfa diidrossicolest-4-en-3-one & 7-Alfa idrossi-4-colesten-3-one, panel: Synonyms: Chimica Concentrazione di Sostanza Panel 7-Alfa,12-alfa diidrossicolest-4-en-3-one e 7-Alfa idrossi-4-colesten-3-one Punto nel tempo (episodio) Sangue |
| zh-CN | Chinese (China) | 7-Alpha,12-alpha 二羟基胆甾-4-烯-3-酮: Synonyms: Ⅲ 7,12-二羟基-4-胆甾烯-3-酮; |
Example Units
| Unit | Source |
|---|---|
| nmol/mL | Example UCUM Units |
92762-4 7-Alpha hydroxy-4-cholesten-3-one [Moles/volume] in Blood
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
- Bld
- Scale
- Qn
- Method
Additional Names
- Short Name
- 7a-OH-4-chol-3-one Bld-sCnc
- Display Name
- 7-Alpha hydroxy-4-cholesten-3-one (Bld) [Moles/Vol]
- Consumer Name Alpha Get Info
- 7-Alpha hydroxy-4-cholesten-3-one, Blood
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 92737-6 | 7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - Blood |
| 92744-2 | Hepatosplenomegaly due to lysosomal storage disorders screening panel - Blood |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG50882-6 | 7-Alpha hydroxy-4-cholesten-3-one| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 7-Alfa hidroxi-4-colesten-3-ona: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 7-alfa hidroxi-4-colesten-3-ona: |
| fr-FR | French (France) | 7-alpha hydroxy-4-cholestène-3-one: |
| it-IT | Italian (Italy) | 7-Alfa-idrossi-4-colestene-3-one: Synonyms: 7α-idrossi-4-colestene-3-one Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue |
| zh-CN | Chinese (China) | 7-Alpha 羟基-4-胆甾烯-3-酮: Synonyms: Ⅲ 7-α 羟基-4-胆甾烯-3-酮; |
Example Units
| Unit | Source |
|---|---|
| nmol/mL | Example UCUM Units |