Version 2.78

Part Description

LP310332-4   Glucopsychosine
Glucopsychosine (also called glucosylsphingosine) is a biomarker for selective deficiency of the enzyme, beta-glucocerebrosidase (beta-glucosidase), the cause of the autosomal recessive lysosomal storage disorder Gaucher disease. There are 3 types of Gaucher disease, all of which include hepatosplenomegaly and hematological abnormalities. Type I, the most common, also includes coagulation abnormalities, bone and lung involvement, whereas type II is rapidly progressive and includes CNS involvement. Type III is more slowly progressive. Laboratory confirmation can include the demonstration of reduced beta-glucosidase activity, molecular analysis of the GBA gene, and elevated blood glucopsychosine. Measurement of glucopsychosine may also help in assessing response to enzyme replacement therapy PMID: 27441734. Source: Regenstrief LOINC

Fully-Specified Name

Component
Glucopsychosine
Property
SCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
Glucopsychosine DBS-sCnc
Display Name
Glucopsychosine (DBS) [Moles/Vol]
Consumer Name Alpha Get Info
Glucopsychosine, Dried blood spot

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
92745-9 Hepatosplenomegaly due to lysosomal storage disorders screening panel - DBS

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Glucopsicosina:Concentración de sustancias:Punto temporal:DBS:Cuantitativo:
es-ES Spanish (Spain) Glucopsicosina:Concentración de sustancia:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
fr-FR French (France) Glucosylsphingosine:Moles/Volume:Ponctuel:Sang buvard:Numérique:
it-IT Italian (Italy) Glucopsicosina:SCnc:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco
pl-PL Polish (Poland) Glukozylosfingozyna:stężenie molowe:punkt w czasie:sucha kropla krwi:ilościowy:
Synonyms: Glukozylosfingozyna
zh-CN Chinese (China) 葡萄糖鞘氨醇半乳糖苷:物质的量浓度:时间点:全血.斑点:定量型:
Synonyms: 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) 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 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 葡萄糖神经酰胺;CAS 52050-17-6 血;血液

Example Units

Unit Source
nmol/mL 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=92752-5