LOINC
Version 2.73

92761-67-Alpha hydroxy-4-cholesten-3-one [Moles/volume] in Serum or PlasmaActive

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

Fully-Specified Name

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

Additional Names

Short Name
7a-OH-4-chol-3-one SerPl-sCnc
Display Name
7-Alpha hydroxy-4-cholesten-3-one [Moles/Vol]
Consumer Name Alpha
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
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

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

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:
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:
es-MXSpanish (Mexico)
7-alfa hidroxi-4-colesten-3-ona:Concentración de sustancias:Punto temporal:Suero o Plasma:Cuantitativo:
es-ESSpanish (Spain)
7-Alfa hidroxi-4-colesten-3-ona:Concentración de sustancia:Punto temporal:Suero o Plasma:Qn:

Example Units

Unit Source
nmol/mL Example UCUM Units

LOINC FHIR® API Example - CodeSystem Request Get Info

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