LOINC
Version 2.73

92751-7Glucopsychosine [Moles/volume] in BloodActive

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
Scale
Qn
Method

Additional Names

Short Name
Glucopsychosine Bld-sCnc
Display Name
Glucopsychosine (Bld) [Moles/Vol]
Consumer Name Alpha
Glucopsychosine, 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
92744-2 Hepatosplenomegaly due to lysosomal storage disorders screening panel - Blood

Member of these Groups

LG50879-2 Glucopsychosine|SCnc|Pt|ANYBldSerPl

Language Variants Get Info

zh-CNChinese (China)
葡萄糖鞘氨醇半乳糖苷:物质的量浓度:时间点:全血:定量型:
fr-FRFrench (France)
Glucosylsphingosine:Moles/Volume:Ponctuel:Sang:Numérique:
it-ITItalian (Italy)
Glucopsicosina:SCnc:Pt:Sangue:Qn:
es-MXSpanish (Mexico)
Glucopsicosina:Concentración de sustancias:Punto temporal:Sangre:Cuantitativo:
es-ESSpanish (Spain)
Glucopsicosina:Concentración de sustancia:Punto temporal:Sangre: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=92751-7