LP310425-6
Lyso-sphingomyelin
Active
Description
Lyso-sphingomyelin (LSM, sphingosylphosphorylcholine) is a biomarker for Niemann-Pick disease types A, B and C, genetically distinct metabolic disorders. Niemann-Pick types A/B and C share clinical features including hepatospenomegaly and specific neurological symptoms. Types A and B are caused by mutations in the SMPD1 gene (or acid sphingomyelinase), while type C is caused by mutations in the NPC1 or NPC2 genes. Both type A/B and C Niemann-Pick show increased plasma levels of LSM and/or its analog Lyso-sphingomyelin509 (LSM509), and it has been suggested that Niemann-Pick A and B can be biochemically distinguished from C by comparing plasma levels of LSM and LSM509. Niemann-Pick type C can also be specifically diagnosed by the levels of oxysterols in blood or plasma PMID: 28259515. Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- Lyso-sphingomyelin
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2019-03-25
- Construct for LOINC Short Name
- LSM
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP310425-6 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP310425-6
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 溶血鞘磷脂 Synonyms: 神经鞘氨醇磷酸胆碱; |
| it-IT | Italian (Italy) | Liso-sfingomielina |
| es-ES | Spanish (Spain) | Lisoesfingomielina |
LOINC Copyright
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