LP411706-7
Psychosine
Active
Description
Psychosine (PSY) is a cytotoxic glycosphingolipid that accumulates in the nervous system in the absence of galactosylceramidase (GALC), a lysosomal enzyme. Deficiency of GALC leads to Krabbe disease (globoid cell leukodystrphy, GLD), a neurological disease characterized by motor defects, seizures, developmental delay, and death usually by age 2. PMID: 24006512 Psychosine has been shown to be elevated in Krabbe disease and is used as a biomarker to detect or determine the progression of the disease. PMID: 25762404 Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- Psychosine
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2019-09-25
- Construct for LOINC Short Name
- Psychosine
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP411706-7
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 神经鞘氨醇半乳糖苷 Synonyms: CAS 2238-90-6 |
| it-IT | Italian (Italy) | Psicosina |
| es-ES | Spanish (Spain) | Psicosina |
LOINC Copyright
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