LOINC
Version 2.73

75739-3Desmosterol [Mass/volume] in Serum or PlasmaActive

Part Description

LP173717-2   Desmosterol
Desmosterol is an intermediate in the synthesis of cholesterol. Desmosterolosis is a rare autosomal recessive inborn errors of cholesterol synthesis that is caused by defective activity of desmosterol reductase which results in an accumulation of demosterol (DHCR24, EC 1.3.1.72), combines a severe osteosclerotic skeletal dysplasia and includes 2-3 toe syndactyly with Smith-Lemli-Opitz syndrome (SLOS; the biochemical block in SLOS results in decreased cholesterol levels and increased 7-dehydrocholesterol levels). Desmosterolosis is caused by mutation of the 24-dehydrocholesterol reductase gene (DHCR24). Many of the malformations in SLOS and desmosterolosis are consistent with impaired hedgehog function. The hedgehog proteins include Sonic hedgehog (SHH), which plays a major role in midline patterning and limb development. Desmosterolosis, caused by defective activity of desmosterol reductase, combines a severe osteosclerotic skeletal dysplasia. 7-dehydrocholesterol reductase (DHCR7, EC 1.3.1.21) reduces the C7-C8 double bond in the sterol B ring to form cholesterol or desmosterol depending upon the precursor. Desmosterol can be converted to cholesterol by DHCR24. Therefore, SLOS and Desmosterolosis patients invariably have elevated levels of cholesterol precursor's 7-dehydrocholesterol (and its spontaneous isomer 8-dehydrocholesterol) and absent desmosterol. [PMID:14631207], [PMID:16207203]. Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.) Source: Human Metabolome Database, HMDB: 02719

Fully-Specified Name

Component
Desmosterol
Property
MCnc
Time
Pt
System
Ser/Plas
Scale
Qn
Method

Additional Names

Short Name
Desmosterol SerPl-mCnc
Display Name
Desmosterol [Mass/Vol]
Consumer Name Alpha
Desmosterol, Blood

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.73
Order vs. Observation
Both
Common US Lab Results Rank
17551

Member of these Panels

LOINC Long Common Name
75858-1 Sterols panel [Mass/volume] - Serum or Plasma

Member of these Groups

LG43385-0 Desmosterol|Pt|Ser/Plas|384.648 g/mole

Language Variants Get Info

zh-CNChinese (China)
链甾醇:质量浓度:时间点:血清/血浆:定量型:
nl-NLDutch (Netherlands)
desmosterol:massa/volume:moment:serum of plasma:kwantitatief:
fr-FRFrench (France)
Desmostérol:Masse/Volume:Ponctuel:Sérum/Plasma:Numérique:
it-ITItalian (Italy)
Desmosterolo:MCnc:Pt:Siero/Plasma:Qn:
ru-RURussian (Russian Federation)
Десмостерол:МассКонц:ТчкВрм:Сыв/Плаз:Колич:
es-MXSpanish (Mexico)
Desmosterol:Concentración de masa:Punto temporal:Suero o Plasma:Cuantitativo:
es-ESSpanish (Spain)
Desmosterol:Concentración de masa:Punto temporal:Suero o Plasma:Qn:
tr-TRTurkish (Turkey)
Dezmosterol:KütlKons:Zmlı:Ser/Plaz:Kant:

Example Units

Unit Source
mg/L Example UCUM Units

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75739-3