Version 2.77

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 hydroxy-4-cholesten-3-one
Part Type
Component (Describes the core component or analyte measured)
Created On
2019-03-20
Construct for LOINC Short Name
7a-OH-4-chol-3-one

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP310330-8
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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 7-Alpha 羟基-4-胆甾烯-3-酮
Synonyms: 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
it-IT Italian (Italy) 7-Alfa-idrossi-4-colestene-3-one
Synonyms: 7α-idrossi-4-colestene-3-one
es-ES Spanish (Spain) 7-Alfa hidroxi-4-colesten-3-ona