Version 2.78

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
SCnc
Time
Pt
System
Ser/Plas
Scale
Qn
Method

Additional Names

Short Name
Desmosterol SerPl-sCnc
Display Name
Desmosterol [Moles/Vol]
Consumer Name Alpha Get Info
Desmosterol, Blood

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.48
Last Updated
Version 2.48
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
74888-9 Sterols panel [Moles/volume] - Serum or Plasma

Member of these Groups Get Info

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

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: Desmosterol
es-ES Spanish (Spain) Desmosterol:Concentración de sustancia:Punto temporal:Suero o Plasma:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Desmosterol:Concentración de sustancias:Punto temporal:Suero o Plasma:Cuantitativo:
fr-CA French (Canada) Desmostérol:Concentration de substance:Temps ponctuel:Sérum/Plasma:Quantitatif:
fr-FR French (France) Desmostérol:Moles/Volume:Ponctuel:Sérum/Plasma:Numérique:
it-IT Italian (Italy) Desmosterolo:SCnc:Pt:Siero/Plasma:Qn:
Synonyms: Chimica Concentrazione di Sostanza Plasma Punto nel tempo (episodio) Siero Siero o Plasma
nl-NL Dutch (Netherlands) desmosterol:mol/volume:moment:serum of plasma:kwantitatief:
pt-BR Portuguese (Brazil) Desmosterol::Pt:Soro/Plas:Qn:
ru-RU Russian (Russian Federation) Десмостерол:МолКонц:ТчкВрм:Сыв/Плаз:Колич:
Synonyms: Количественный Молярность;Молярная объёмная концентрация Плазма Сыворотка Сыворотка или Плазма Точка во времени;Момент
tr-TR Turkish (Turkey) Dezmosterol:SubKons:Zmlı:Ser/Plaz:Kant:
zh-CN Chinese (China) 链甾醇:物质的量浓度:时间点:血清/血浆:定量型:
Synonyms: 24-脱氢胆固醇;24-去氢胆固醇 克分子浓度;克分子浓度(单位体积);摩尔浓度;摩尔浓度(单位体积);物质的量浓度(单位体积) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 血清或血浆

Example Units

Unit Source
pmol/L Example UCUM Units

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=74905-1