92750-9
Glucopsychosine [Moles/volume] in Serum or Plasma
Active
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
LOINC Names Get Info
- Fully-Specified Name
- Glucopsychosine:
SCnc: Pt: Ser/Plas: Qn: - Long Common Name
- Glucopsychosine [Moles/volume] in Serum or Plasma
- Short Name
- Glucopsychosine SerPl-sCnc
- Display Name
- Glucopsychosine [Moles/Vol]
- Consumer Name Alpha Get Info
- Glucopsychosine, Blood
Part Model Get Info
- Component
- Glucopsychosine
LP310332-4
- Analyte
- Glucopsychosine
LP310332-4
- Component Numerator
- Glucopsychosine
LP310332-4
- Component Numerator Core
- Glucopsychosine
LP310332-4
- Component Numerator Core Suffix
- NULL
- Component Denominator
- NULL
- Component Denominator Core
- NULL
- Component Denominator Core Suffix
- NULL
- Challenge
- NULL
- Adjustment
- NULL
- Count
- NULL
- Property
- SCnc
LP6860-3
- Time
- Pt
LP6960-1
- Time Core
- Pt
LP6960-1
- Time Modifier
- NULL
- System
- Ser/Plas
LP7576-4
- System Core
- Ser/Plas
LP7576-4
- Super System
- NULL
- Scale
- Qn
LP7753-9
- Method
- NULL
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66 (ADD)
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 92743-4 | Hepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or Plasma |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG50879-2 | Glucopsychosine| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| cs-CZ | Czech (Czechia) | Glukopsychosin: |
| el-GR | Greek (Greece) | Γλυκοψυχοσίνη: Synonyms: CHEM Pt Qn SCnc Γλυκοψυχοσίνη Ορός Ορός/Πλάσμα Πλάσμα |
| es-ES | Spanish (Spain) | Glucopsicosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glucopsicosina: |
| fr-FR | French (France) | Glucosylsphingosine: |
| it-IT | Italian (Italy) | Glucopsicosina: Synonyms: Chimica Concentrazione di Sostanza Plasma Punto nel tempo (episodio) Siero Siero o Plasma |
| pl-PL | Polish (Poland) | Glukozylosfingozyna: Synonyms: Glukozylosfingozyna |
| zh-CN | Chinese (China) | 葡萄糖鞘氨醇半乳糖苷: Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| nmol/mL | Example UCUM Units |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://