Version 2.78

Description

An enzyme that hydrolyzes galactose from ceramide monohexosides. Deficiency of this enzyme may cause globoid cell leukodystrophy (LEUKODYSTROPHY, GLOBOID CELL). EC 3.2.1.46. Source: National Library of Medicine, MeSH 2006

Basic Part Properties

Part Display Name
Galactosylceramidase
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
GALC

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP14027-4

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 半乳糖苷神经酰胺酶
Synonyms: Beta-半乳糖脑苷沉积症;Krabbe 氏病;Krabbe 白质营养不良;Krabbe 脑白质病变;Krabbe 脑白质营养不良;β-半乳糖脑苷沉积症;克拉勃脑白质营养不良;半乳培脑苷脂累积病;半乳糖脑苷脂酶;球样细胞脑白质营养不良;脑白质营养不良
fr-CA French (Canada) Galactosylcéramidase
et-EE Estonian (Estonia) Galaktosüülkeramidaas
es-ES Spanish (Spain) Galactosilceramidasa
it-IT Italian (Italy) Galattosilceramidasi
tr-TR Turkish (Turkey) Galaktozilseramidaz
ru-RU Russian (Russian Federation) Галактозилцерамидаза
nl-NL Dutch (Netherlands) galactosylceramidase
fr-BE French (Belgium) Galactosylcéramidase