Version 2.78

Part Description

LP14027-4   Galactosylceramidase
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

Reference Information

Type Source Reference
Article National Library of Medicine Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. PMID: 21502868 Genet Med

Fully-Specified Name

Component
Galactosylceramidase
Property
CCnc
Time
Pt
System
Bld.dot
Scale
Qn
Method

Additional Names

Short Name
GALC DBS-cCnc
Display Name
Galactosylceramidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info
Galactosylceramidase, Dried blood spot

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.34
Last Updated
Version 2.61
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
105458-4 Lysosomal and peroxisomal storage disorders panel - DBS
62300-9 Lysosomal storage disorders newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Galactosilceramidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Galactosilceramidasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
et-EE Estonian (Estonia) Galaktosüülkeramidaas:CCnc:Pt:Vereplekk:Qn:
Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA French (Canada) Galactosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR French (France) Galactosylcéramidase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE French (Belgium) Galactosylcéramidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT Italian (Italy) Galattosilceramidasi:CCnC:Pt:Sangue.su carta da filtro:Qn:
Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL Dutch (Netherlands) galactosylceramidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pt-BR Portuguese (Brazil) Galactocerebrosidase::Pt:SgPapel:Qn:
ru-RU Russian (Russian Federation) Галактозилцерамидаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич:
Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR Turkish (Turkey) Galaktozilseramidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN Chinese (China) 半乳糖苷神经酰胺酶:催化浓度:时间点:全血.斑点:定量型:
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 催化浓度(单位体积);单位体积内酶的单位数 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 血;血液

Example Units

Unit Source
umol/L/h Example UCUM Units

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=62310-8