LP310327-4
7-Alpha,12-alpha dihydroxycholest-4-en-3-one
Active
Description
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
Basic Part Properties
- Part Display Name
- 7-Alpha,12-alpha dihydroxycholest-4-en-3-one
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2019-03-20
- Construct for LOINC Short Name
- 7a12aDiOHchol4en3one
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 7-Alpha,12-alpha 二羟基胆甾-4-烯-3-酮 Synonyms: 7,12-二羟基-4-胆甾烯-3-酮; |
| it-IT | Italian (Italy) | 7-Alfa,12-alfa diidrossicolest-4-en-3-one & 7-Alfa idrossi-4-colesten-3-one, panel Synonyms: Panel 7-Alfa,12-alfa diidrossicolest-4-en-3-one e 7-Alfa idrossi-4-colesten-3-one |
| es-ES | Spanish (Spain) | 7-alfa, 12-alfa dihidroxicolest-4-en-3-ona |
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