LP189526-9
Lysosomal acid lipase
Active
Description
Lysosomal acid lipase (LAL) is an enzyme that hydrolyzes cholesterol esters and triglycerides. Decreased levels of LAL leads to two autosomal recessive disorders known as Wolman disease (WD) and Cholesteryl Ester Storage Disease (CESD). Complete loss of the enzyme causes WD in infants who present with vomiting, diarrhea, poor weight gain and hepatomegaly subsequently leading to death. Partial loss of LAL causes CESD with variable symptoms ranging from asymptomatic to gastrointestinal symptoms, hepatomegaly, elevated transaminases and dyslipidemia. PMID: 25345094 Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- Lysosomal acid lipase
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-02-18
- Construct for LOINC Short Name
- LAL
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=LP189526-9
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | 溶酶体酸性脂肪酶 Synonyms: LAL; |
es-ES | Spanish (Spain) | Lipasa ácida lisosomal |
it-IT | Italian (Italy) | Lipasi acida lisosomiale |
tr-TR | Turkish (Turkey) | Lizozomal asit lipaz |
nl-NL | Dutch (Netherlands) | lysosomale zure lipase |
LOINC Copyright
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